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Volumn , Issue , 2009, Pages 171-197

The Fanconi Syndrome

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EID: 79953663733     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-449851-8.00010-3     Document Type: Chapter
Times cited : (6)

References (281)
  • 1
    • 0001338872 scopus 로고
    • Familiäre cystindiathese. Hoppe-Seylers Zeitschrift für physiologische Chemie
    • Abderhalden E Familiäre cystindiathese. Hoppe-Seylers Zeitschrift für physiologische Chemie. Strassburg 1903, 38:557-561.
    • (1903) Strassburg , vol.38 , pp. 557-561
    • Abderhalden, E.1
  • 2
    • 1542280501 scopus 로고
    • The histologic lesions of the kidney in the oculo-cerebro-renal syndrome of Lowe
    • Acker KJ, Roels H, Beelaerts W, Pasternack A, Valcke R The histologic lesions of the kidney in the oculo-cerebro-renal syndrome of Lowe. Nephron 1967, 4:193-214.
    • (1967) Nephron , vol.4 , pp. 193-214
    • Acker, K.J.1    Roels, H.2    Beelaerts, W.3    Pasternack, A.4    Valcke, R.5
  • 5
    • 0031945356 scopus 로고
    • Hereditary fructose intolerance
    • Ali M, Rellos P, Cox TM Hereditary fructose intolerance. J. Med. Genet. 1988, 35:353-365.
    • (1988) J. Med. Genet. , vol.35 , pp. 353-365
    • Ali, M.1    Rellos, P.2    Cox, T.M.3
  • 6
    • 0011869973 scopus 로고
    • Effect of maleic acid on the kidney. I. Oxidation of Krebs cycle intermediates by various tissues of maleate-intoxicated rats
    • Angielski S, Rogulski J Effect of maleic acid on the kidney. I. Oxidation of Krebs cycle intermediates by various tissues of maleate-intoxicated rats. Acta Biochim. Pol. 1962, 9:357-365.
    • (1962) Acta Biochim. Pol. , vol.9 , pp. 357-365
    • Angielski, S.1    Rogulski, J.2
  • 7
    • 0030874878 scopus 로고    scopus 로고
    • Mechanisms of chloride transport in the proximal tubule
    • Aronson PS, Giebisch G Mechanisms of chloride transport in the proximal tubule. Am. J. Physiol. 1997, 273:F179-F192.
    • (1997) Am. J. Physiol. , vol.273
    • Aronson, P.S.1    Giebisch, G.2
  • 8
    • 0020967244 scopus 로고
    • The effect of chelation therapy on the amino aciduria and peptiduria of Wilson's disease
    • Asatoor AM, Milne MD, Walshe JM The effect of chelation therapy on the amino aciduria and peptiduria of Wilson's disease. J. R. Coll. Physicians Lond. 1983, 17:122-125.
    • (1983) J. R. Coll. Physicians Lond. , vol.17 , pp. 122-125
    • Asatoor, A.M.1    Milne, M.D.2    Walshe, J.M.3
  • 9
    • 0027207650 scopus 로고
    • Monoclonal Ig L chain and L chain V domain fragment crystallization in myeloma-associated Fanconi's syndrome
    • Aucouturier P, Bauwens M, Khamlichi AA, et al. Monoclonal Ig L chain and L chain V domain fragment crystallization in myeloma-associated Fanconi's syndrome. J. Immunol. 1993, 150:3561-3568.
    • (1993) J. Immunol. , vol.150 , pp. 3561-3568
    • Aucouturier, P.1    Bauwens, M.2    Khamlichi, A.A.3
  • 10
    • 73049174982 scopus 로고
    • Shmerlingd. Primary tubulopathies. III. A case of oculo-cerebro-renal syndrome (Lowe syndrome)
    • Auricchio S, Frischknecht W Shmerlingd. Primary tubulopathies. III. A case of oculo-cerebro-renal syndrome (Lowe syndrome). Helv. Paediatr. Acta 1961, 16:647-655.
    • (1961) Helv. Paediatr. Acta , vol.16 , pp. 647-655
    • Auricchio, S.1    Frischknecht, W.2
  • 11
    • 78651135069 scopus 로고
    • Metachromatic form of diffuse cerebral sclerosis. III. Significance of sulfatide and other lipid abnormalities in white matter and kidney
    • Austin JH Metachromatic form of diffuse cerebral sclerosis. III. Significance of sulfatide and other lipid abnormalities in white matter and kidney. Neurology 1960, 10:470-483.
    • (1960) Neurology , vol.10 , pp. 470-483
    • Austin, J.H.1
  • 12
    • 0029797673 scopus 로고    scopus 로고
    • Proximal tubule dysfunction in cystine-loaded tubules: effect of phosphate and metabolic substrates
    • Bajaj G, Baum M Proximal tubule dysfunction in cystine-loaded tubules: effect of phosphate and metabolic substrates. Am. J. Physiol. 1996, 271:F717-F722.
    • (1996) Am. J. Physiol. , vol.271
    • Bajaj, G.1    Baum, M.2
  • 13
    • 0022504450 scopus 로고
    • Microperfusion study of proximal tubule bicarbonate transport in maleic acid-induced renal tubular acidosis
    • Bank N, Aynedjian HS, Mutz BF Microperfusion study of proximal tubule bicarbonate transport in maleic acid-induced renal tubular acidosis. Am. J. Physiol. 1986, 250:F476-F482.
    • (1986) Am. J. Physiol. , vol.250
    • Bank, N.1    Aynedjian, H.S.2    Mutz, B.F.3
  • 14
    • 0021171681 scopus 로고
    • Evidence for a defect in vitamin D metabolism in a patient with incomplete Fanconi syndrome
    • Baran DT, Marcy TW Evidence for a defect in vitamin D metabolism in a patient with incomplete Fanconi syndrome. J. Clin. Endocrinol. Metab. 1984, 59:998-1001.
    • (1984) J. Clin. Endocrinol. Metab. , vol.59 , pp. 998-1001
    • Baran, D.T.1    Marcy, T.W.2
  • 16
    • 0026580732 scopus 로고
    • Developmental changes in rabbit juxtamedullary proximal convoluted tubule acidification
    • Baum M Developmental changes in rabbit juxtamedullary proximal convoluted tubule acidification. Pediatr. Res. 1992, 31:411-414.
    • (1992) Pediatr. Res. , vol.31 , pp. 411-414
    • Baum, M.1
  • 17
    • 0031854963 scopus 로고    scopus 로고
    • The Fanconi syndrome of cystinosis: insights into the pathophysiology
    • Baum M The Fanconi syndrome of cystinosis: insights into the pathophysiology. Pediatr. Nephrol. 1998, 12:492-497.
    • (1998) Pediatr. Nephrol. , vol.12 , pp. 492-497
    • Baum, M.1
  • 18
    • 0021281266 scopus 로고
    • Evidence for neutral transcellular NaCl transport and neutral basolateral chloride exit in the rabbit convoluted tubule
    • Baum M, Berry CA Evidence for neutral transcellular NaCl transport and neutral basolateral chloride exit in the rabbit convoluted tubule. J. Clin. Invest. 1984, 74:205-211.
    • (1984) J. Clin. Invest. , vol.74 , pp. 205-211
    • Baum, M.1    Berry, C.A.2
  • 19
    • 0017070873 scopus 로고
    • Membrane permeability as a cause of transport defects in experimental Fanconi syndrome. A new hypothesis
    • Bergeron M, Dubord L, Hausser C, Schwab C Membrane permeability as a cause of transport defects in experimental Fanconi syndrome. A new hypothesis. J. Clin. Invest. 1976, 57:1181-1189.
    • (1976) J. Clin. Invest. , vol.57 , pp. 1181-1189
    • Bergeron, M.1    Dubord, L.2    Hausser, C.3    Schwab, C.4
  • 21
    • 0029958198 scopus 로고    scopus 로고
    • Specific effect of maleate on an apical membrane glycoprotein (gp330) in proximal tubule of rat kidneys
    • Bergeron M, Mayers P, Brown D Specific effect of maleate on an apical membrane glycoprotein (gp330) in proximal tubule of rat kidneys. Am. J. Physiol. 1996, 271:F908-F916.
    • (1996) Am. J. Physiol. , vol.271
    • Bergeron, M.1    Mayers, P.2    Brown, D.3
  • 22
    • 0035459501 scopus 로고    scopus 로고
    • Kearns-Sayre syndrome associated with de Toni-Debre-Fanconi syndrome due to cytochrome-c-oxidase (COX) deficiency
    • Berio A, Piazzi A Kearns-Sayre syndrome associated with de Toni-Debre-Fanconi syndrome due to cytochrome-c-oxidase (COX) deficiency. Panminerva Med. 2001, 43:211-214.
    • (2001) Panminerva Med. , vol.43 , pp. 211-214
    • Berio, A.1    Piazzi, A.2
  • 25
    • 0018320323 scopus 로고
    • Successful indomethacin treatment of two paediatric patients with severe tubulopathies. A boy with an unusual hypercalciuria and a girl with cystinosis
    • Betend B, David L, Vincent M, Hermier M, Francois R Successful indomethacin treatment of two paediatric patients with severe tubulopathies. A boy with an unusual hypercalciuria and a girl with cystinosis. Helv. Paediatr. Acta 1979, 34:339-344.
    • (1979) Helv. Paediatr. Acta , vol.34 , pp. 339-344
    • Betend, B.1    David, L.2    Vincent, M.3    Hermier, M.4    Francois, R.5
  • 26
    • 0035458854 scopus 로고    scopus 로고
    • The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria
    • Bingham C, Ellard S, Nicholls AJ, et al. The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. Diabetes 2001, 50:2047-2052.
    • (2001) Diabetes , vol.50 , pp. 2047-2052
    • Bingham, C.1    Ellard, S.2    Nicholls, A.J.3
  • 28
    • 0000255582 scopus 로고    scopus 로고
    • Inherited disorders of the renal tubule
    • W.B. Saunders, Philadelphia, B.M. Brenner (Ed.)
    • Bonnardeaux A, Bichet DG Inherited disorders of the renal tubule. The Kidney 1999, 1656-1698. W.B. Saunders, Philadelphia. B.M. Brenner (Ed.).
    • (1999) The Kidney , pp. 1656-1698
    • Bonnardeaux, A.1    Bichet, D.G.2
  • 29
    • 0032751995 scopus 로고    scopus 로고
    • Multinucleated podocytes in a child with nephrotic syndrome and Fanconi's syndrome: A unique clue to the diagnosis
    • Bonsib SM, Horvath F Multinucleated podocytes in a child with nephrotic syndrome and Fanconi's syndrome: A unique clue to the diagnosis. Am. J. Kidney Dis. 1999, 34:966-971.
    • (1999) Am. J. Kidney Dis. , vol.34 , pp. 966-971
    • Bonsib, S.M.1    Horvath, F.2
  • 30
    • 0018169891 scopus 로고
    • The fanconi syndrome in Basenji dogs: a new model for renal transport defects
    • Bovee KC, Joyce T, Reynolds R, Segal S The fanconi syndrome in Basenji dogs: a new model for renal transport defects. Science 1978, 201:1129-1131.
    • (1978) Science , vol.201 , pp. 1129-1131
    • Bovee, K.C.1    Joyce, T.2    Reynolds, R.3    Segal, S.4
  • 31
    • 0019942868 scopus 로고
    • Metabolic requirement for inorganic phosphate by the rabbit proximal tubule
    • Brazy PC, Gullans SR, Mandel LJ, Dennis VW Metabolic requirement for inorganic phosphate by the rabbit proximal tubule. J. Clin. Invest. 1982, 70:53-62.
    • (1982) J. Clin. Invest. , vol.70 , pp. 53-62
    • Brazy, P.C.1    Gullans, S.R.2    Mandel, L.J.3    Dennis, V.W.4
  • 32
    • 0021104255 scopus 로고
    • Multiple endocrine abnormalities in Basenji dogs with renal tubular dysfunction
    • Breitschwerdt EB, Ochoa R, Waltman C Multiple endocrine abnormalities in Basenji dogs with renal tubular dysfunction. J. Am. Vet. Med. Assoc. 1983, 182:1348-1353.
    • (1983) J. Am. Vet. Med. Assoc. , vol.182 , pp. 1348-1353
    • Breitschwerdt, E.B.1    Ochoa, R.2    Waltman, C.3
  • 33
    • 0017764477 scopus 로고
    • Maleic acid-induced impaired conversion of 25(OH)D3 to 1,25(OH)2D3: implications for Fanconi's syndrome
    • Brewer ED, Tsai HC, Szeto KS, Morris RC Maleic acid-induced impaired conversion of 25(OH)D3 to 1,25(OH)2D3: implications for Fanconi's syndrome. Kidney Int. 1977, 12:244-252.
    • (1977) Kidney Int. , vol.12 , pp. 244-252
    • Brewer, E.D.1    Tsai, H.C.2    Szeto, K.S.3    Morris, R.C.4
  • 34
    • 20144388799 scopus 로고    scopus 로고
    • Fanconi's syndrome induced by a monoclonal Vkappa3 light chain in Waldenstrom's macroglobulinemia
    • Bridoux F, Sirac C, Hugue V, et al. Fanconi's syndrome induced by a monoclonal Vkappa3 light chain in Waldenstrom's macroglobulinemia. Am. J. Kidney Dis. 2005, 45:749-757.
    • (2005) Am. J. Kidney Dis. , vol.45 , pp. 749-757
    • Bridoux, F.1    Sirac, C.2    Hugue, V.3
  • 35
    • 0030029894 scopus 로고    scopus 로고
    • Protein trafficking and polarity in kidney epithelium: from cell biology to physiology
    • Brown D, Stow JL Protein trafficking and polarity in kidney epithelium: from cell biology to physiology. Physiol. Rev. 1996, 76:245-297.
    • (1996) Physiol. Rev. , vol.76 , pp. 245-297
    • Brown, D.1    Stow, J.L.2
  • 36
  • 37
    • 0032116939 scopus 로고    scopus 로고
    • Occurrence of an acute Fanconi syndrome following cisplatin chemotherapy
    • Cachat F, Nenadov-Beck M, Guignard JP Occurrence of an acute Fanconi syndrome following cisplatin chemotherapy. Med. Pediatr. Oncol. 1998, 31:40-41.
    • (1998) Med. Pediatr. Oncol. , vol.31 , pp. 40-41
    • Cachat, F.1    Nenadov-Beck, M.2    Guignard, J.P.3
  • 38
    • 0029144941 scopus 로고
    • Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome
    • Campos Y, Garcia-Silva T, Barrionuevo CR, Cabello A, Muley R, Arenas J Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome. Pediatr. Neurol. 1995, 13:69-72.
    • (1995) Pediatr. Neurol. , vol.13 , pp. 69-72
    • Campos, Y.1    Garcia-Silva, T.2    Barrionuevo, C.R.3    Cabello, A.4    Muley, R.5    Arenas, J.6
  • 40
    • 0025876473 scopus 로고
    • Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function
    • Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. N. Engl. J. Med. 1991, 324:1318-1325.
    • (1991) N. Engl. J. Med. , vol.324 , pp. 1318-1325
    • Charnas, L.R.1    Bernardini, I.2    Rader, D.3    Hoeg, J.M.4    Gahl, W.A.5
  • 41
    • 0025975050 scopus 로고
    • Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment
    • Chen YT Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment. Pediatr. Nephrol. 1991, 5:71-76.
    • (1991) Pediatr. Nephrol. , vol.5 , pp. 71-76
    • Chen, Y.T.1
  • 43
    • 0036837663 scopus 로고    scopus 로고
    • Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis
    • Cherqui S, Sevin C, Hamard G, et al. Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol. Cell Biol. 2002, 22:7622-7632.
    • (2002) Mol. Cell Biol. , vol.22 , pp. 7622-7632
    • Cherqui, S.1    Sevin, C.2    Hamard, G.3
  • 44
    • 0018833527 scopus 로고
    • Serum 1,25 dihydroxyvitamin D levels in normal children and in vitamin D disorders
    • Chesney RW, Rosen JF, Hamstra AJ, Deluca HF Serum 1,25 dihydroxyvitamin D levels in normal children and in vitamin D disorders. Am. J. Dis. Child. 1980, 134:135-139.
    • (1980) Am. J. Dis. Child. , vol.134 , pp. 135-139
    • Chesney, R.W.1    Rosen, J.F.2    Hamstra, A.J.3    Deluca, H.F.4
  • 45
    • 0035164490 scopus 로고    scopus 로고
    • Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes
    • Chisholm CA, Vavelidis F, Lovell MA, et al. Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes. Prenat. Diagn. 2001, 21:856-859.
    • (2001) Prenat. Diagn. , vol.21 , pp. 856-859
    • Chisholm, C.A.1    Vavelidis, F.2    Lovell, M.A.3
  • 46
    • 0035006545 scopus 로고    scopus 로고
    • Megalin and cubilin: synergistic endocytic receptors in renal proximal tubule
    • Christensen EI, Birn H Megalin and cubilin: synergistic endocytic receptors in renal proximal tubule. Am. J. Physiol. Renal Physiol. 2001, 280:F562-F573.
    • (2001) Am. J. Physiol. Renal Physiol. , vol.280
    • Christensen, E.I.1    Birn, H.2
  • 47
    • 0038153196 scopus 로고    scopus 로고
    • Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules
    • Christensen EI, Devuyst O, Dom G, et al. Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc. Natl Acad. Sci. USA 2003, 100:8472-8477.
    • (2003) Proc. Natl Acad. Sci. USA , vol.100 , pp. 8472-8477
    • Christensen, E.I.1    Devuyst, O.2    Dom, G.3
  • 48
    • 3142677421 scopus 로고    scopus 로고
    • Protein reabsorption in renal proximal tubule-function and dysfunction in kidney pathophysiology
    • Christensen EI, Gburek J Protein reabsorption in renal proximal tubule-function and dysfunction in kidney pathophysiology. Pediatr. Nephrol. 2004, 19:714-721.
    • (2004) Pediatr. Nephrol. , vol.19 , pp. 714-721
    • Christensen, E.I.1    Gburek, J.2
  • 50
    • 0028866108 scopus 로고
    • Osteomalacia associated with adult Fanconi's syndrome: clinical and diagnostic features
    • Clarke BL, Wynne AG, Wilson DM, Fitzpatrick LA Osteomalacia associated with adult Fanconi's syndrome: clinical and diagnostic features. Clin. Endocrinol. (Oxf) 1995, 43:479-490.
    • (1995) Clin. Endocrinol. (Oxf) , vol.43 , pp. 479-490
    • Clarke, B.L.1    Wynne, A.G.2    Wilson, D.M.3    Fitzpatrick, L.A.4
  • 53
  • 54
    • 0034644740 scopus 로고    scopus 로고
    • Acute regulation of Na+/H+ exchanger NHE3 by parathyroid hormone via NHE3 phosphorylation and dynamin-dependent endocytosis
    • Collazo R, Fan L, Zhao H, Wiederkehr M, Moe OW Acute regulation of Na+/H+ exchanger NHE3 by parathyroid hormone via NHE3 phosphorylation and dynamin-dependent endocytosis. J. Biol. Chem. 2000, 275:31601-31608.
    • (2000) J. Biol. Chem. , vol.275 , pp. 31601-31608
    • Collazo, R.1    Fan, L.2    Zhao, H.3    Wiederkehr, M.4    Moe, O.W.5
  • 56
    • 0025905226 scopus 로고
    • Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading
    • Coor C, Salmon RF, Quigley R, Marver D, Baum M Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading. J. Clin. Invest. 1991, 87:955-961.
    • (1991) J. Clin. Invest. , vol.87 , pp. 955-961
    • Coor, C.1    Salmon, R.F.2    Quigley, R.3    Marver, D.4    Baum, M.5
  • 57
    • 0000884121 scopus 로고
    • Glucose-6-phosphatase of the liver in glycogen storage disease
    • Cori GT, Cori CF Glucose-6-phosphatase of the liver in glycogen storage disease. J. Biol. Chem. 1952, 199:661-667.
    • (1952) J. Biol. Chem. , vol.199 , pp. 661-667
    • Cori, G.T.1    Cori, C.F.2
  • 58
    • 0000089325 scopus 로고
    • Observations on the carbohydrate metabolism of tumors
    • Crabtree HG Observations on the carbohydrate metabolism of tumors. Biochem. J. 1929, 23:536-545.
    • (1929) Biochem. J. , vol.23 , pp. 536-545
    • Crabtree, H.G.1
  • 59
    • 0023935910 scopus 로고
    • Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation
    • Cross NC, Tolan DR, Cox TM Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell 1988, 53:881-885.
    • (1988) Cell , vol.53 , pp. 881-885
    • Cross, N.C.1    Tolan, D.R.2    Cox, T.M.3
  • 60
    • 0021321295 scopus 로고
    • Acute, but not chronic, metabolic acidosis disturbs 25-hydroxyvitamin D3 metabolism
    • Cunningham J, Bikle DD, Avioli LV Acute, but not chronic, metabolic acidosis disturbs 25-hydroxyvitamin D3 metabolism. Kidney Int. 1984, 25:47-52.
    • (1984) Kidney Int. , vol.25 , pp. 47-52
    • Cunningham, J.1    Bikle, D.D.2    Avioli, L.V.3
  • 61
    • 4444268126 scopus 로고    scopus 로고
    • Defective parathyroid hormone regulation of NHE3 activity and phosphate adaptation in cultured NHERF-1-/- renal proximal tubule cells
    • Cunningham R, Steplock D, Wang F, et al. Defective parathyroid hormone regulation of NHE3 activity and phosphate adaptation in cultured NHERF-1-/- renal proximal tubule cells. J. Biol. Chem. 2004, 279:37815-37821.
    • (2004) J. Biol. Chem. , vol.279 , pp. 37815-37821
    • Cunningham, R.1    Steplock, D.2    Wang, F.3
  • 65
    • 0031976420 scopus 로고    scopus 로고
    • Phosphate diabetes in patients with chronic fatigue syndrome
    • De Lorenzo F, Hargreaves J, Kakkar VV Phosphate diabetes in patients with chronic fatigue syndrome. Postgrad. Med. J. 1998, 74:229-232.
    • (1998) Postgrad. Med. J. , vol.74 , pp. 229-232
    • De Lorenzo, F.1    Hargreaves, J.2    Kakkar, V.V.3
  • 66
    • 0037485490 scopus 로고
    • Remarks on the relations between renal rickets (renal dwarfism) and renal diabetes
    • De Toni G Remarks on the relations between renal rickets (renal dwarfism) and renal diabetes. Acta Paediatr. 1933, 16:479.
    • (1933) Acta Paediatr. , vol.16 , pp. 479
    • De Toni, G.1
  • 67
    • 0037485489 scopus 로고
    • Rachitisme tardif coexistant avec une nephrite chronique et une glycosurie
    • Debre R Rachitisme tardif coexistant avec une nephrite chronique et une glycosurie. Arch. Med. Enf. 1934, 37:597.
    • (1934) Arch. Med. Enf. , vol.37 , pp. 597
    • Debre, R.1
  • 68
    • 0000227413 scopus 로고
    • Hypercaliuric rickets associated with renal tubular damage
    • Dent CE, Friedman M Hypercaliuric rickets associated with renal tubular damage. Arch. Dis. Child. 1964, 39:240-249.
    • (1964) Arch. Dis. Child. , vol.39 , pp. 240-249
    • Dent, C.E.1    Friedman, M.2
  • 69
    • 3242807577 scopus 로고    scopus 로고
    • Fanconi's syndrome in HIV+ adults: report of three cases and literature review
    • Earle KE, Seneviratne T, Shaker J, Shoback D Fanconi's syndrome in HIV+ adults: report of three cases and literature review. J. Bone Miner. Res. 2004, 19:714-721.
    • (2004) J. Bone Miner. Res. , vol.19 , pp. 714-721
    • Earle, K.E.1    Seneviratne, T.2    Shaker, J.3    Shoback, D.4
  • 70
    • 0028875578 scopus 로고
    • Insights into the biochemical mechanism of maleic acid-induced Fanconi syndrome
    • Eiam-Ong S, Spohn M, Kurtzman NA, Sabatini S Insights into the biochemical mechanism of maleic acid-induced Fanconi syndrome. Kidney Int. 1995, 48:1542-1548.
    • (1995) Kidney Int. , vol.48 , pp. 1542-1548
    • Eiam-Ong, S.1    Spohn, M.2    Kurtzman, N.A.3    Sabatini, S.4
  • 71
    • 0015121937 scopus 로고
    • Wilson's disease with reversible renal tubular dysfunction. Correlation with proximal tubular ultrastructure
    • Elsas LJ, Hayslett JP, Spargo BH, Durant JL, Rosenberg LE Wilson's disease with reversible renal tubular dysfunction. Correlation with proximal tubular ultrastructure. Ann. Intern. Med. 1971, 75:427-433.
    • (1971) Ann. Intern. Med. , vol.75 , pp. 427-433
    • Elsas, L.J.1    Hayslett, J.P.2    Spargo, B.H.3    Durant, J.L.4    Rosenberg, L.E.5
  • 72
    • 0032195337 scopus 로고    scopus 로고
    • The molecular biology of galactosemia
    • Elsas LJ, Lai K The molecular biology of galactosemia. Genet. Med. 1998, 1:40-48.
    • (1998) Genet. Med. , vol.1 , pp. 40-48
    • Elsas, L.J.1    Lai, K.2
  • 73
    • 0035990295 scopus 로고    scopus 로고
    • Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells
    • Endo F, Sun MS Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells. J. Inherit. Metab. Dis. 2002, 25:227-234.
    • (2002) J. Inherit. Metab. Dis. , vol.25 , pp. 227-234
    • Endo, F.1    Sun, M.S.2
  • 74
    • 0033574637 scopus 로고    scopus 로고
    • Dual mechanisms of regulation on Na/H exchanger NHE-3 by parathyroid hormone in rat kidney
    • Fan L, Wiederkehr MR, Collazo R, et al. Dual mechanisms of regulation on Na/H exchanger NHE-3 by parathyroid hormone in rat kidney. J. Biol. Chem. 1999, 274:11289-11295.
    • (1999) J. Biol. Chem. , vol.274 , pp. 11289-11295
    • Fan, L.1    Wiederkehr, M.R.2    Collazo, R.3
  • 75
    • 0012954799 scopus 로고
    • Die nicht diabetischen Glykosurien und Hyperglykamien des altern Kindes
    • Fanconi G Die nicht diabetischen Glykosurien und Hyperglykamien des altern Kindes. Jahrb. Kinderheilk 1931, 133:257.
    • (1931) Jahrb. Kinderheilk , vol.133 , pp. 257
    • Fanconi, G.1
  • 76
    • 0012913258 scopus 로고
    • Der fruhinfantile nephrotsch-glykosurische Zwergwuchs mit hypophospahtamischer Rachitis
    • Fanconi G Der fruhinfantile nephrotsch-glykosurische Zwergwuchs mit hypophospahtamischer Rachitis. Jahrb. Kinderheilk 1936, 147:299.
    • (1936) Jahrb. Kinderheilk , vol.147 , pp. 299
    • Fanconi, G.1
  • 77
    • 77049297365 scopus 로고
    • Die chronische aminoacidurie (aminosaeurediabetes oder nephrotisch-glukosurisscher zwergwuchs) ber der glykogenose und cystinkrankheit
    • Fanconi G, Bickel H Die chronische aminoacidurie (aminosaeurediabetes oder nephrotisch-glukosurisscher zwergwuchs) ber der glykogenose und cystinkrankheit. Helv. Paediatr. Acta 1949, 4:359-396.
    • (1949) Helv. Paediatr. Acta , vol.4 , pp. 359-396
    • Fanconi, G.1    Bickel, H.2
  • 78
    • 72949140721 scopus 로고
    • Lower nephron nephrosis due to concentrated Lysol vaginal douches: a report of two cases
    • Finzer KH Lower nephron nephrosis due to concentrated Lysol vaginal douches: a report of two cases. Can. Med. Assoc. J. 1961, 84:549.
    • (1961) Can. Med. Assoc. J. , vol.84 , pp. 549
    • Finzer, K.H.1
  • 79
    • 0028033777 scopus 로고
    • Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis)
    • Fisher SE, Black GC, Lloyd SE, et al. Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis). Hum. Mol. Genet. 1994, 3:2053-2059.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 2053-2059
    • Fisher, S.E.1    Black, G.C.2    Lloyd, S.E.3
  • 80
    • 0028788756 scopus 로고
    • Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)
    • Fisher SE, Lloyd SE, Pearce SH, Thakker RV, Craig IW Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics 1995, 29:598-606.
    • (1995) Genomics , vol.29 , pp. 598-606
    • Fisher, S.E.1    Lloyd, S.E.2    Pearce, S.H.3    Thakker, R.V.4    Craig, I.W.5
  • 81
    • 0025613863 scopus 로고
    • Effect of cystine loading and cystine dimethylester on renal brushborder membrane transport
    • Foreman JW, Benson L Effect of cystine loading and cystine dimethylester on renal brushborder membrane transport. Biosci. Rep. 1990, 10:455-459.
    • (1990) Biosci. Rep. , vol.10 , pp. 455-459
    • Foreman, J.W.1    Benson, L.2
  • 82
    • 0025368490 scopus 로고
    • Effect of cystine loading on substrate oxidation by rat renal tubules
    • Foreman JW, Benson LL Effect of cystine loading on substrate oxidation by rat renal tubules. Pediatr. Nephrol. 1990, 4:236-239.
    • (1990) Pediatr. Nephrol. , vol.4 , pp. 236-239
    • Foreman, J.W.1    Benson, L.L.2
  • 83
    • 0029164566 scopus 로고
    • Metabolic studies of rat renal tubule cells loaded with cystine: the cystine dimethylester model of cystinosis
    • Foreman JW, Benson LL, Wellons M, et al. Metabolic studies of rat renal tubule cells loaded with cystine: the cystine dimethylester model of cystinosis. J. Am. Soc. Nephrol. 1995, 6:269-272.
    • (1995) J. Am. Soc. Nephrol. , vol.6 , pp. 269-272
    • Foreman, J.W.1    Benson, L.L.2    Wellons, M.3
  • 84
    • 0023494032 scopus 로고
    • Effect of cystine dimethylester on renal solute handling and isolated renal tubule transport in the rat: a new model of the Fanconi syndrome
    • Foreman JW, Bowring MA, Lee J, States B, Segal S Effect of cystine dimethylester on renal solute handling and isolated renal tubule transport in the rat: a new model of the Fanconi syndrome. Metabolism 1987, 36:1185-1191.
    • (1987) Metabolism , vol.36 , pp. 1185-1191
    • Foreman, J.W.1    Bowring, M.A.2    Lee, J.3    States, B.4    Segal, S.5
  • 85
    • 0003013226 scopus 로고    scopus 로고
    • Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: gllutaric acidemia type II
    • McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
    • Frerman FE, Goodman SI Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: gllutaric acidemia type II. The Metabolic and Molecular Bases of Inherited Disease 2001, 2357-2365. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2357-2365
    • Frerman, F.E.1    Goodman, S.I.2
  • 86
    • 0019845465 scopus 로고
    • Fanconi's syndrome in renal transplantation
    • Friedman A, Chesney R Fanconi's syndrome in renal transplantation. Am. J. Nephrol. 1981, 1:45-47.
    • (1981) Am. J. Nephrol. , vol.1 , pp. 45-47
    • Friedman, A.1    Chesney, R.2
  • 88
    • 0030876344 scopus 로고    scopus 로고
    • Aminoglycoside-associated Fanconi's syndrome: an underrecognized entity
    • Gainza FJ, Minguela JI, Lampreabe I Aminoglycoside-associated Fanconi's syndrome: an underrecognized entity. Nephron 1997, 77:205-211.
    • (1997) Nephron , vol.77 , pp. 205-211
    • Gainza, F.J.1    Minguela, J.I.2    Lampreabe, I.3
  • 89
    • 0016294697 scopus 로고
    • The Fanconi syndrome associated with hepatic glycogenosis and abnormal metabolism of galactose
    • Garty R, Cooper M, Tabachnik E The Fanconi syndrome associated with hepatic glycogenosis and abnormal metabolism of galactose. J. Pediatr. 1974, 85:821-823.
    • (1974) J. Pediatr. , vol.85 , pp. 821-823
    • Garty, R.1    Cooper, M.2    Tabachnik, E.3
  • 90
    • 15544373016 scopus 로고    scopus 로고
    • Renal tubule albumin transport
    • Gekle M Renal tubule albumin transport. Annu. Rev. Physiol. 2005, 67:573-594.
    • (2005) Annu. Rev. Physiol. , vol.67 , pp. 573-594
    • Gekle, M.1
  • 91
    • 9144238661 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy: consequences of sulphatide accumulation
    • Gieselmann V, Franken S, Klein D, et al. Metachromatic leukodystrophy: consequences of sulphatide accumulation. Acta Paediatr. Suppl. 2003, 92:74-79.
    • (2003) Acta Paediatr. Suppl. , vol.92 , pp. 74-79
    • Gieselmann, V.1    Franken, S.2    Klein, D.3
  • 94
    • 0018907238 scopus 로고
    • Experimental Fanconi syndrome: III. Effect of cadmium on renal tubular function, the ATP-Na-K-ATPase transport system and renal tubular ultrastructure
    • Gonick H, Indraprasit S, Rosen V, Neustein H, Van de Velde R, Raghavan SRV Experimental Fanconi syndrome: III. Effect of cadmium on renal tubular function, the ATP-Na-K-ATPase transport system and renal tubular ultrastructure. Miner. Electrolyte Metab. 1980, 3:21-35.
    • (1980) Miner. Electrolyte Metab. , vol.3 , pp. 21-35
    • Gonick, H.1    Indraprasit, S.2    Rosen, V.3    Neustein, H.4    Van de Velde, R.5    Raghavan, S.R.V.6
  • 95
    • 0035291165 scopus 로고    scopus 로고
    • Congenital and inherited renal disease of small animals
    • viii
    • Greco DS Congenital and inherited renal disease of small animals. Vet. Clin. North Am. Small Anim. Pract. 2001, 31:393-399. viii.
    • (2001) Vet. Clin. North Am. Small Anim. Pract. , vol.31 , pp. 393-399
    • Greco, D.S.1
  • 96
    • 0027934892 scopus 로고
    • A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I
    • Grompe M, St Louis M, Demers SI, al Dhalimy M, Leclerc B, Tanguay RM A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. N. Engl. J. Med. 1994, 331:353-357.
    • (1994) N. Engl. J. Med. , vol.331 , pp. 353-357
    • Grompe, M.1    St Louis, M.2    Demers, S.I.3    al Dhalimy, M.4    Leclerc, B.5    Tanguay, R.M.6
  • 97
    • 0009124912 scopus 로고
    • Fanconi syndrome (adult type) developing secondary to the ingestion of outdated tetracycline
    • Gross JM Fanconi syndrome (adult type) developing secondary to the ingestion of outdated tetracycline. Ann. Intern. Med. 1963, 58:523-528.
    • (1963) Ann. Intern. Med. , vol.58 , pp. 523-528
    • Gross, J.M.1
  • 98
    • 0033228045 scopus 로고    scopus 로고
    • Inhibition of Na-K-ATPase activity and gene expression by a myeloma light chain in proximal tubule cells
    • Guan S, el Dahr S, Dipp S, Batuman V Inhibition of Na-K-ATPase activity and gene expression by a myeloma light chain in proximal tubule cells. J. Investig. Med. 1999, 47:496-501.
    • (1999) J. Investig. Med. , vol.47 , pp. 496-501
    • Guan, S.1    el Dahr, S.2    Dipp, S.3    Batuman, V.4
  • 99
    • 0018665191 scopus 로고
    • Maleic acid induced aminoaciduria, studied by free flow micropuncture and continuous microperfusion
    • Gunther R, Silbernagl S, Deetjen P Maleic acid induced aminoaciduria, studied by free flow micropuncture and continuous microperfusion. Pflugers Arch. 1979, 382:109-114.
    • (1979) Pflugers Arch. , vol.382 , pp. 109-114
    • Gunther, R.1    Silbernagl, S.2    Deetjen, P.3
  • 100
    • 0032493276 scopus 로고    scopus 로고
    • ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells
    • Gunther W, Luchow A, Cluzeaud F, Vandewalle A, Jentsch TJ ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc. Natl Acad. Sci. USA 1998, 95:8075-8080.
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 8075-8080
    • Gunther, W.1    Luchow, A.2    Cluzeaud, F.3    Vandewalle, A.4    Jentsch, T.J.5
  • 101
    • 0037274891 scopus 로고    scopus 로고
    • The ClC-5 chloride channel knockout mouse - an animal model for Dent's disease
    • Gunther W, Piwon N, Jentsch TJ The ClC-5 chloride channel knockout mouse - an animal model for Dent's disease. Pflugers Arch. 2003, 445:456-462.
    • (2003) Pflugers Arch. , vol.445 , pp. 456-462
    • Gunther, W.1    Piwon, N.2    Jentsch, T.J.3
  • 102
    • 0026264664 scopus 로고
    • Studies on the maleic acid-induced Fanconi syndrome in the rat: mechanism of phosphaturia and its mitigation by dietary phosphate restriction
    • Guntupalli J, Delaney V, Bourke E Studies on the maleic acid-induced Fanconi syndrome in the rat: mechanism of phosphaturia and its mitigation by dietary phosphate restriction. Contrib. Nephrol. 1991, 92:83-92.
    • (1991) Contrib. Nephrol. , vol.92 , pp. 83-92
    • Guntupalli, J.1    Delaney, V.2    Bourke, E.3
  • 103
    • 0036066173 scopus 로고    scopus 로고
    • Immunolocalization of cystinosin, the protein defective in cystinosis
    • Haq MR, Kalatzis V, Gubler MC, et al. Immunolocalization of cystinosin, the protein defective in cystinosis. J. Am. Soc. Nephrol. 2002, 13:2046-2051.
    • (2002) J. Am. Soc. Nephrol. , vol.13 , pp. 2046-2051
    • Haq, M.R.1    Kalatzis, V.2    Gubler, M.C.3
  • 104
    • 0020358176 scopus 로고
    • Effect of indomethacin on clinical progress and renal function in cystinosis
    • Haycock GB, Al Dahhan J, Mak RH, Chantler C Effect of indomethacin on clinical progress and renal function in cystinosis. Arch. Dis. Child. 1982, 57:934-939.
    • (1982) Arch. Dis. Child. , vol.57 , pp. 934-939
    • Haycock, G.B.1    Al Dahhan, J.2    Mak, R.H.3    Chantler, C.4
  • 105
    • 0031749366 scopus 로고    scopus 로고
    • Cadmium inhibits vacuolar H(+)-ATPase and endocytosis in rat kidney cortex
    • Herak-Kramberger CM, Brown D, Sabolic I Cadmium inhibits vacuolar H(+)-ATPase and endocytosis in rat kidney cortex. Kidney Int. 1998, 53:1713-1726.
    • (1998) Kidney Int. , vol.53 , pp. 1713-1726
    • Herak-Kramberger, C.M.1    Brown, D.2    Sabolic, I.3
  • 106
    • 0029907318 scopus 로고    scopus 로고
    • Renal type II Na/Pi-cotransporter is strongly impaired whereas the Na/sulphate-cotransporter and aquaporin 1 are unchanged in cadmium-treated rats
    • Herak-Kramberger CM, Spindler B, Biber J, Murer H, Sabolic I Renal type II Na/Pi-cotransporter is strongly impaired whereas the Na/sulphate-cotransporter and aquaporin 1 are unchanged in cadmium-treated rats. Pflugers Arch. 1996, 432:336-344.
    • (1996) Pflugers Arch. , vol.432 , pp. 336-344
    • Herak-Kramberger, C.M.1    Spindler, B.2    Biber, J.3    Murer, H.4    Sabolic, I.5
  • 107
    • 0033605263 scopus 로고    scopus 로고
    • Megalin antagonizes activation of the parathyroid hormone receptor
    • Hilpert J, Nykjaer A, Jacobsen C, et al. Megalin antagonizes activation of the parathyroid hormone receptor. J. Biol. Chem. 1999, 274:5620-5625.
    • (1999) J. Biol. Chem. , vol.274 , pp. 5620-5625
    • Hilpert, J.1    Nykjaer, A.2    Jacobsen, C.3
  • 110
    • 2342489373 scopus 로고    scopus 로고
    • Evidence for genetic heterogeneity in Dent's disease
    • Hoopes RR, Raja KM, Koich A, et al. Evidence for genetic heterogeneity in Dent's disease. Kidney Int. 2004, 65:1615-1620.
    • (2004) Kidney Int. , vol.65 , pp. 1615-1620
    • Hoopes, R.R.1    Raja, K.M.2    Koich, A.3
  • 111
  • 112
    • 2442596964 scopus 로고    scopus 로고
    • Transient proximal renal tubular acidosis and Fanconi syndrome in a dog
    • Hostutler RA, DiBartola SP, Eaton KA Transient proximal renal tubular acidosis and Fanconi syndrome in a dog. J. Am. Vet. Med. Assoc. 2004, 224:1611-1614.
    • (2004) J. Am. Vet. Med. Assoc. , vol.224 , pp. 1611-1614
    • Hostutler, R.A.1    DiBartola, S.P.2    Eaton, K.A.3
  • 113
    • 0014271407 scopus 로고
    • Fanconi syndrome with renal sodium wasting and metabolic alkalosis
    • Houston IB, Boichis H, Edelmann CM Fanconi syndrome with renal sodium wasting and metabolic alkalosis. Am. J. Med. 1968, 44:638-646.
    • (1968) Am. J. Med. , vol.44 , pp. 638-646
    • Houston, I.B.1    Boichis, H.2    Edelmann, C.M.3
  • 114
    • 0026589913 scopus 로고
    • Membrane fluidity and sodium transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome
    • Hsu BY, McNamara PD, Mahoney SG, et al. Membrane fluidity and sodium transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome. Metabolism 1992, 41:253-259.
    • (1992) Metabolism , vol.41 , pp. 253-259
    • Hsu, B.Y.1    McNamara, P.D.2    Mahoney, S.G.3
  • 115
    • 0025891857 scopus 로고
    • Renal brush border membrane lipid composition in Basenji dogs with spontaneous idiopathic Fanconi syndrome. Identification of a mutation in the arylsulfatase A gene of a pation with adult-type metachromatic leukodystrophy
    • Hsu BY, Wehrli SL, Yandrasitz JR, et al. Renal brush border membrane lipid composition in Basenji dogs with spontaneous idiopathic Fanconi syndrome. Identification of a mutation in the arylsulfatase A gene of a pation with adult-type metachromatic leukodystrophy. Am. J. Hum. Genet. 1991, 48:971-978.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 971-978
    • Hsu, B.Y.1    Wehrli, S.L.2    Yandrasitz, J.R.3
  • 116
    • 0027101723 scopus 로고
    • Acute tubulointerstitial nephritis with uveitis syndrome presenting as multiple tubular dysfunction including Fanconi's syndrome
    • Igarashi T, Kawato H, Kamoshita S, Nosaka K, Seiya K, Hayakawa H Acute tubulointerstitial nephritis with uveitis syndrome presenting as multiple tubular dysfunction including Fanconi's syndrome. Pediatr. Nephrol. 1992, 6:547-549.
    • (1992) Pediatr. Nephrol. , vol.6 , pp. 547-549
    • Igarashi, T.1    Kawato, H.2    Kamoshita, S.3    Nosaka, K.4    Seiya, K.5    Hayakawa, H.6
  • 117
    • 0019178513 scopus 로고
    • Osteomalacia and weakness from excessive antacid ingestion
    • Insogna KL, Bordley DR, Caro JF, Lockwood DH Osteomalacia and weakness from excessive antacid ingestion. JAMA 1980, 244:2544-2546.
    • (1980) JAMA , vol.244 , pp. 2544-2546
    • Insogna, K.L.1    Bordley, D.R.2    Caro, J.F.3    Lockwood, D.H.4
  • 118
    • 33646110095 scopus 로고    scopus 로고
    • Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity
    • Jacobs SM, van Beurden DH, Klomp LW, Berger R Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity. Pediatr. Res. 2006, 59:365-370.
    • (2006) Pediatr. Res. , vol.59 , pp. 365-370
    • Jacobs, S.M.1    van Beurden, D.H.2    Klomp, L.W.3    Berger, R.4
  • 119
    • 0035511851 scopus 로고    scopus 로고
    • Transient renal tubulopathy in a Labrador retriever
    • Jamieson PM, Chandler ML Transient renal tubulopathy in a Labrador retriever. J. Small Anim. Pract. 2001, 42:546-549.
    • (2001) J. Small Anim. Pract. , vol.42 , pp. 546-549
    • Jamieson, P.M.1    Chandler, M.L.2
  • 120
    • 0035503565 scopus 로고    scopus 로고
    • Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter
    • Kalatzis V, Cherqui S, Antignac C, Gasnier B Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J. 2001, 20:5940-5949.
    • (2001) EMBO J. , vol.20 , pp. 5940-5949
    • Kalatzis, V.1    Cherqui, S.2    Antignac, C.3    Gasnier, B.4
  • 121
    • 0027515106 scopus 로고
    • Exogenous adenosine triphosphate (ATP) preserves proximal tubule microfilament structure and function in vivo in a maleic acid model of ATP depletion
    • Kellerman PS Exogenous adenosine triphosphate (ATP) preserves proximal tubule microfilament structure and function in vivo in a maleic acid model of ATP depletion. J. Clin. Invest. 1993, 92:1940-1949.
    • (1993) J. Clin. Invest. , vol.92 , pp. 1940-1949
    • Kellerman, P.S.1
  • 122
    • 0020084619 scopus 로고
    • Genetic heterogeneity in metachromatic leukodystrophy
    • Kihara H Genetic heterogeneity in metachromatic leukodystrophy. Am. J. Hum. Genet. 1982, 34:171-181.
    • (1982) Am. J. Hum. Genet. , vol.34 , pp. 171-181
    • Kihara, H.1
  • 123
    • 0019973276 scopus 로고
    • Metachromatic leukodystrophy caused by a partial cerebroside sulfatase
    • Kihara H, Fluharty AL, O'Brien JS, Fish CH Metachromatic leukodystrophy caused by a partial cerebroside sulfatase. Clin. Genet. 1982, 21:253-261.
    • (1982) Clin. Genet. , vol.21 , pp. 253-261
    • Kihara, H.1    Fluharty, A.L.2    O'Brien, J.S.3    Fish, C.H.4
  • 124
    • 0022529555 scopus 로고
    • Attenuated activities and structural alterations of arylsulfatase A in tissues from subjects with pseudo arylsulfatase A deficiency
    • Kihara H, Meek WE, Fluharty AL Attenuated activities and structural alterations of arylsulfatase A in tissues from subjects with pseudo arylsulfatase A deficiency. Hum. Genet. 1986, 74:59-62.
    • (1986) Hum. Genet. , vol.74 , pp. 59-62
    • Kihara, H.1    Meek, W.E.2    Fluharty, A.L.3
  • 125
    • 0022455172 scopus 로고
    • Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debre syndrome
    • Kitano A, Nishiyama S, Miike T, Hattori S, Ohtani Y, Matsuda I Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debre syndrome. Brain Dev. 1986, 8:289-295.
    • (1986) Brain Dev. , vol.8 , pp. 289-295
    • Kitano, A.1    Nishiyama, S.2    Miike, T.3    Hattori, S.4    Ohtani, Y.5    Matsuda, I.6
  • 126
    • 0027741045 scopus 로고
    • Mechanisms of rhabdomyolysis
    • Knochel JP Mechanisms of rhabdomyolysis. Curr. Opin. Rheumatol. 1993, 5:725-731.
    • (1993) Curr. Opin. Rheumatol. , vol.5 , pp. 725-731
    • Knochel, J.P.1
  • 127
    • 33744964444 scopus 로고    scopus 로고
    • Fanconi's syndrome and distal (type 1) renal tubular acidosis in a patient with primary Sjogren's syndrome with monoclonal gammopathy of undetermined significance
    • Kobayashi T, Muto S, Nemoto J, et al. Fanconi's syndrome and distal (type 1) renal tubular acidosis in a patient with primary Sjogren's syndrome with monoclonal gammopathy of undetermined significance. Clin. Nephrol. 2006, 65:427-432.
    • (2006) Clin. Nephrol. , vol.65 , pp. 427-432
    • Kobayashi, T.1    Muto, S.2    Nemoto, J.3
  • 128
    • 0025891857 scopus 로고
    • Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy
    • Kondo R, Wakamatsu N, Yoshino H, Fukuhara N, Miyatake T, Tsuji S Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy. Am. J. Hum. Genet. 1991, 48:971-978.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 971-978
    • Kondo, R.1    Wakamatsu, N.2    Yoshino, H.3    Fukuhara, N.4    Miyatake, T.5    Tsuji, S.6
  • 129
    • 0015505028 scopus 로고
    • Phosphate mediation of the Crabtree and Pasteur effects
    • Koobs DH Phosphate mediation of the Crabtree and Pasteur effects. Science 1972, 178:127-133.
    • (1972) Science , vol.178 , pp. 127-133
    • Koobs, D.H.1
  • 130
    • 0035940434 scopus 로고    scopus 로고
    • Megalin-dependent cubilinmediated endocytosis is a major pathway for the apical uptake of transferrin in polarized epithelia
    • Kozyraki R, Fyfe J, Verroust PJ, et al. Megalin-dependent cubilinmediated endocytosis is a major pathway for the apical uptake of transferrin in polarized epithelia. Proc. Natl Acad. Sci. USA 2001, 98:12491-12496.
    • (2001) Proc. Natl Acad. Sci. USA , vol.98 , pp. 12491-12496
    • Kozyraki, R.1    Fyfe, J.2    Verroust, P.J.3
  • 131
    • 0014884016 scopus 로고
    • Experimental Fanconi syndrome. I. Effect of maleic acid on renal cortical Na-K-ATPase activity and ATP levels
    • Kramer HJ, Gonick HC Experimental Fanconi syndrome. I. Effect of maleic acid on renal cortical Na-K-ATPase activity and ATP levels. J. Lab. Clin. Med. 1970, 76:799-808.
    • (1970) J. Lab. Clin. Med. , vol.76 , pp. 799-808
    • Kramer, H.J.1    Gonick, H.C.2
  • 132
    • 0015544723 scopus 로고
    • Effect of maleic acid on sodium-linked tubular transport in experimental Fanconi syndrome
    • Kramer HJ, Gonick HC Effect of maleic acid on sodium-linked tubular transport in experimental Fanconi syndrome. Nephron 1973, 10:306-319.
    • (1973) Nephron , vol.10 , pp. 306-319
    • Kramer, H.J.1    Gonick, H.C.2
  • 133
    • 0023038387 scopus 로고
    • In vitro inhibition of Na-K-ATPase by trace metals: relation to renal and cardiovascular damage
    • Kramer HJ, Gonick HC, Lu E In vitro inhibition of Na-K-ATPase by trace metals: relation to renal and cardiovascular damage. Nephron 1986, 44:329-336.
    • (1986) Nephron , vol.44 , pp. 329-336
    • Kramer, H.J.1    Gonick, H.C.2    Lu, E.3
  • 134
    • 0342313509 scopus 로고    scopus 로고
    • Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiency
    • Kuwertz-Broking E, Koch HG, Marquardt T, et al. Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiency. Pediatr. Nephrol. 2000, 14:495-498.
    • (2000) Pediatr. Nephrol. , vol.14 , pp. 495-498
    • Kuwertz-Broking, E.1    Koch, H.G.2    Marquardt, T.3
  • 139
    • 0020391962 scopus 로고
    • Phosphate reabsorption in the distal convoluted tubule
    • Lassiter WE, Colindres RE Phosphate reabsorption in the distal convoluted tubule. Adv. Exp. Med. Biol. 1982, 151:21-32.
    • (1982) Adv. Exp. Med. Biol. , vol.151 , pp. 21-32
    • Lassiter, W.E.1    Colindres, R.E.2
  • 140
    • 3042832097 scopus 로고    scopus 로고
    • Fanconi's syndrome and subsequent progressive renal failure caused by a Chinese herb containing aristolochic acid
    • Lee S, Lee T, Lee B, et al. Fanconi's syndrome and subsequent progressive renal failure caused by a Chinese herb containing aristolochic acid. Nephrology (Carlton) 2004, 9:126-129.
    • (2004) Nephrology (Carlton) , vol.9 , pp. 126-129
    • Lee, S.1    Lee, T.2    Lee, B.3
  • 141
    • 0032857025 scopus 로고    scopus 로고
    • Megalin knockout mice as an animal model of low molecular weight proteinuria
    • Leheste JR, Rolinski B, Vorum H, et al. Megalin knockout mice as an animal model of low molecular weight proteinuria. Am. J. Pathol. 1999, 155:1361-1370.
    • (1999) Am. J. Pathol. , vol.155 , pp. 1361-1370
    • Leheste, J.R.1    Rolinski, B.2    Vorum, H.3
  • 142
    • 0027381941 scopus 로고
    • Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
    • Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science 1993, 262:580-583.
    • (1993) Science , vol.262 , pp. 580-583
    • Lei, K.J.1    Shelly, L.L.2    Pan, C.J.3    Sidbury, J.B.4    Chou, J.Y.5
  • 143
    • 0019428902 scopus 로고
    • Valproic acid: a possible cause of proximal tubular renal syndrome
    • Lenoir GR, Perignon JL, Gubler MC, Broyer M Valproic acid: a possible cause of proximal tubular renal syndrome. J. Pediatr. 1981, 98:503-504.
    • (1981) J. Pediatr. , vol.98 , pp. 503-504
    • Lenoir, G.R.1    Perignon, J.L.2    Gubler, M.C.3    Broyer, M.4
  • 145
    • 0042365182 scopus 로고    scopus 로고
    • Insights into the pathogenesis of galactosemia
    • Leslie ND Insights into the pathogenesis of galactosemia. Annu. Rev. Nutr. 2003, 23:59-80.
    • (2003) Annu. Rev. Nutr. , vol.23 , pp. 59-80
    • Leslie, N.D.1
  • 146
    • 0014907006 scopus 로고
    • Renal function in Wilson's disease: response to penicillamine therapy
    • Leu ML, Strickland GT, Gutman RA Renal function in Wilson's disease: response to penicillamine therapy. Am. J. Med. Sci. 1970, 260:381-398.
    • (1970) Am. J. Med. Sci. , vol.260 , pp. 381-398
    • Leu, M.L.1    Strickland, G.T.2    Gutman, R.A.3
  • 147
    • 0028490988 scopus 로고
    • Adult Fanconi syndrome with proximal muscle weakness and hypophosphatemic osteomalacia: report of a case
    • Lian LM, Chang YC, Yang CC, Yang JC, Kao KP, Chung MY Adult Fanconi syndrome with proximal muscle weakness and hypophosphatemic osteomalacia: report of a case. J. Formos. Med. Assoc. 1994, 93:709-714.
    • (1994) J. Formos. Med. Assoc. , vol.93 , pp. 709-714
    • Lian, L.M.1    Chang, Y.C.2    Yang, C.C.3    Yang, J.C.4    Kao, K.P.5    Chung, M.Y.6
  • 148
    • 0005770709 scopus 로고
    • Über störing des cystinstoffwechsels bei kindern
    • Lignac GO Über störing des cystinstoffwechsels bei kindern. Deutsches Archiv für Klinische Medizin 1924, 145:139-150.
    • (1924) Deutsches Archiv für Klinische Medizin , vol.145 , pp. 139-150
    • Lignac, G.O.1
  • 149
    • 0030971762 scopus 로고    scopus 로고
    • Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome
    • Lin T, Orrison BM, Leahey AM, et al. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am. J. Hum. Genet. 1997, 60:1384-1388.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1384-1388
    • Lin, T.1    Orrison, B.M.2    Leahey, A.M.3
  • 150
    • 0021518716 scopus 로고
    • Axial heterogeneity in the rat proximal convoluted tubule. I. Bicarbonate, chloride, and water transport
    • Liu FY, Cogan MG Axial heterogeneity in the rat proximal convoluted tubule. I. Bicarbonate, chloride, and water transport. Am. J. Physiol. 1984, 247:F816-F821.
    • (1984) Am. J. Physiol. , vol.247
    • Liu, F.Y.1    Cogan, M.G.2
  • 151
    • 8544254724 scopus 로고    scopus 로고
    • Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders
    • Lloyd SE, Gunther W, Pearce SH, et al. Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. Hum. Mol. Genet. 1997, 6:1233-1239.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1233-1239
    • Lloyd, S.E.1    Gunther, W.2    Pearce, S.H.3
  • 152
    • 13344286321 scopus 로고    scopus 로고
    • A common molecular basis for three inherited kidney stone diseases
    • Lloyd SE, Pearce SH, Fisher SE, et al. A common molecular basis for three inherited kidney stone diseases. Nature 1996, 379:445-449.
    • (1996) Nature , vol.379 , pp. 445-449
    • Lloyd, S.E.1    Pearce, S.H.2    Fisher, S.E.3
  • 153
    • 0000623605 scopus 로고
    • Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity
    • Lowe CU, Terrey M, MacLachlan EA Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am. J. Dis. Child. 1952, 83:164-184.
    • (1952) AMA Am. J. Dis. Child. , vol.83 , pp. 164-184
    • Lowe, C.U.1    Terrey, M.2    MacLachlan, E.A.3
  • 154
    • 4344611693 scopus 로고    scopus 로고
    • Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1
    • Luijerink MC, van Beurden EA, Malingre HE, et al. Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1. Kidney Int. 2004, 66:990-1000.
    • (2004) Kidney Int. , vol.66 , pp. 990-1000
    • Luijerink, M.C.1    van Beurden, E.A.2    Malingre, H.E.3
  • 155
    • 32444439527 scopus 로고    scopus 로고
    • Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping
    • Madsen PP, Kibaek M, Roca X, et al. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Hum. Genet. 2006, 118:680-690.
    • (2006) Hum. Genet. , vol.118 , pp. 680-690
    • Madsen, P.P.1    Kibaek, M.2    Roca, X.3
  • 156
    • 0019082561 scopus 로고
    • Evidence for renal tubular leakage in maleic acid-induced Fanconi syndrome
    • Maesaka JK, McCaffery M Evidence for renal tubular leakage in maleic acid-induced Fanconi syndrome. Am. J. Physiol. 1980, 239:F507-F513.
    • (1980) Am. J. Physiol. , vol.239
    • Maesaka, J.K.1    McCaffery, M.2
  • 157
    • 33846893356 scopus 로고    scopus 로고
    • Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin
    • Malakauskas SM, Quan H, Fields TA, et al. Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin. Am. J. Physiol. Renal Physiol. 2006.
    • (2006) Am. J. Physiol. Renal Physiol.
    • Malakauskas, S.M.1    Quan, H.2    Fields, T.A.3
  • 158
    • 0021894486 scopus 로고
    • Metabolic substrates, cellular energy production, and the regulation of proximal tubular transport
    • Mandel LJ Metabolic substrates, cellular energy production, and the regulation of proximal tubular transport. Annu. Rev. Physiol. 1985, 47:85-101.
    • (1985) Annu. Rev. Physiol. , vol.47 , pp. 85-101
    • Mandel, L.J.1
  • 160
    • 0027478064 scopus 로고
    • Improved renal function in children with cystinosis treated with cysteamine
    • Markello TC, Bernardini IM, Gahl WA Improved renal function in children with cystinosis treated with cysteamine. N. Engl. J. Med. 1993, 328:1157-1162.
    • (1993) N. Engl. J. Med. , vol.328 , pp. 1157-1162
    • Markello, T.C.1    Bernardini, I.M.2    Gahl, W.A.3
  • 161
    • 0036736777 scopus 로고    scopus 로고
    • Physiological importance of endosomal acidification: potential role in proximal tubulopathies
    • Marshansky V, Ausiello DA, Brown D Physiological importance of endosomal acidification: potential role in proximal tubulopathies. Curr. Opin. Nephrol. Hypertens. 2002, 11:527-537.
    • (2002) Curr. Opin. Nephrol. Hypertens. , vol.11 , pp. 527-537
    • Marshansky, V.1    Ausiello, D.A.2    Brown, D.3
  • 162
    • 0025313688 scopus 로고
    • Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency
    • Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates PM Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency. Lancet 1990, 335:1589.
    • (1990) Lancet , vol.335 , pp. 1589
    • Matsubara, Y.1    Narisawa, K.2    Miyabayashi, S.3    Tada, K.4    Coates, P.M.5
  • 163
    • 0342645789 scopus 로고
    • Intractable hypophosphatemic rickets with renal glycosuria and acidosis (the Fanconi syndrome)
    • McCune DJ Intractable hypophosphatemic rickets with renal glycosuria and acidosis (the Fanconi syndrome). Am. J. Dis. Child. 1943, 65:81.
    • (1943) Am. J. Dis. Child. , vol.65 , pp. 81
    • McCune, D.J.1
  • 164
    • 0015219764 scopus 로고
    • Correlation between H+ and anion movement in mitochondria and the key role of the phosphate carrier
    • McGivan JD, Klingenberg M Correlation between H+ and anion movement in mitochondria and the key role of the phosphate carrier. Eur. J. Biochem. 1971, 20:392-399.
    • (1971) Eur. J. Biochem. , vol.20 , pp. 392-399
    • McGivan, J.D.1    Klingenberg, M.2
  • 165
    • 0016405634 scopus 로고
    • The metabolic significance of anion transport in mitochondria
    • Meijer AJ, Van Dam K The metabolic significance of anion transport in mitochondria. Biochim. Biophys. Acta 1974, 346:213-244.
    • (1974) Biochim. Biophys. Acta , vol.346 , pp. 213-244
    • Meijer, A.J.1    Van Dam, K.2
  • 166
    • 33847728029 scopus 로고    scopus 로고
    • Renal Transport of Glucose, Amino Acids, Sodium, Chloride and Water
    • Saunders, Philadelphia, PA, B.M. Brenner (Ed.)
    • Moe OW, Baum M, Berry CA, Rector FC Renal Transport of Glucose, Amino Acids, Sodium, Chloride and Water. The Kidney 2004, 413-452. Saunders, Philadelphia, PA. B.M. Brenner (Ed.).
    • (2004) The Kidney , pp. 413-452
    • Moe, O.W.1    Baum, M.2    Berry, C.A.3    Rector, F.C.4
  • 168
    • 11144241263 scopus 로고    scopus 로고
    • Ezrinradixin-moesin (ERM)-binding phosphoprotein 50 organizes ERM proteins at the apical membrane of polarized epithelia
    • Morales FC, Takahashi Y, Kreimann EL, Georgescu MM Ezrinradixin-moesin (ERM)-binding phosphoprotein 50 organizes ERM proteins at the apical membrane of polarized epithelia. Proc. Natl Acad. Sci. USA 2004, 101:17705-17710.
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 17705-17710
    • Morales, F.C.1    Takahashi, Y.2    Kreimann, E.L.3    Georgescu, M.M.4
  • 170
    • 0026084932 scopus 로고
    • Renal and skin involvement in a patient with complete Kearns-Sayre syndrome
    • Mori K, Narahara K, Ninomiya S, Goto Y, Nonaka I Renal and skin involvement in a patient with complete Kearns-Sayre syndrome. Am. J. Med. Genet. 1991, 38:583-587.
    • (1991) Am. J. Med. Genet. , vol.38 , pp. 583-587
    • Mori, K.1    Narahara, K.2    Ninomiya, S.3    Goto, Y.4    Nonaka, I.5
  • 172
    • 0029046683 scopus 로고
    • Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain
    • Morris AA, Taylor RW, Birch-Machin MA, et al. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr. Nephrol. 1995, 9:407-411.
    • (1995) Pediatr. Nephrol. , vol.9 , pp. 407-411
    • Morris, A.A.1    Taylor, R.W.2    Birch-Machin, M.A.3
  • 173
    • 0014298143 scopus 로고
    • An experimental renal acidification defect in patients with hereditary fructose intolerance. I. Its resemblance to renal tubular acidosis
    • Morris RC An experimental renal acidification defect in patients with hereditary fructose intolerance. I. Its resemblance to renal tubular acidosis. J. Clin. Invest. 1968, 47:1389-1398.
    • (1968) J. Clin. Invest. , vol.47 , pp. 1389-1398
    • Morris, R.C.1
  • 174
    • 0014312935 scopus 로고
    • An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis; its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis
    • Morris RC An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis; its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis. J. Clin. Invest. 1968, 47:1648-1663.
    • (1968) J. Clin. Invest. , vol.47 , pp. 1648-1663
    • Morris, R.C.1
  • 175
    • 0014980123 scopus 로고
    • Modulation of experimental renal dysfunction of hereditary fructose intolerance by circulating parathyroid hormone
    • Morris RC, McSherry E, Sebastian A Modulation of experimental renal dysfunction of hereditary fructose intolerance by circulating parathyroid hormone. Proc. Natl Acad. Sci. USA 1971, 68:132-135.
    • (1971) Proc. Natl Acad. Sci. USA , vol.68 , pp. 132-135
    • Morris, R.C.1    McSherry, E.2    Sebastian, A.3
  • 176
    • 0017873254 scopus 로고
    • Evidence that the severity of depletion of inorganic phosphate determines the severity of the disturbance of adenine nucleotide metabolism in the liver and renal cortex of the fructose-loaded rat
    • Morris RC, Nigon K, Reed EB Evidence that the severity of depletion of inorganic phosphate determines the severity of the disturbance of adenine nucleotide metabolism in the liver and renal cortex of the fructose-loaded rat. J. Clin. Invest. 1978, 61:209-220.
    • (1978) J. Clin. Invest. , vol.61 , pp. 209-220
    • Morris, R.C.1    Nigon, K.2    Reed, E.B.3
  • 177
    • 16044375067 scopus 로고
    • Sulfatide lipidosis: metachromatic leukodystrophy
    • McGraw-Hill, New York, J.B. Stanbury, J.B. Wyngaarden, D.S. Fredrickson (Eds.)
    • Moser HW Sulfatide lipidosis: metachromatic leukodystrophy. The Metabolic Basis of Inherited Disease 1972, 688-729. McGraw-Hill, New York. J.B. Stanbury, J.B. Wyngaarden, D.S. Fredrickson (Eds.).
    • (1972) The Metabolic Basis of Inherited Disease , pp. 688-729
    • Moser, H.W.1
  • 178
    • 0027650480 scopus 로고
    • Maleic acid-induced proximal tubulopathy: Na:K pump inhibition
    • Mujais SK Maleic acid-induced proximal tubulopathy: Na:K pump inhibition. J. Am. Soc. Nephrol. 1993, 4:142-147.
    • (1993) J. Am. Soc. Nephrol. , vol.4 , pp. 142-147
    • Mujais, S.K.1
  • 179
    • 0029881541 scopus 로고    scopus 로고
    • Glycine attenuates Fanconi syndrome induced by maleate or ifosfamide in rats
    • Nissim I, Weinberg JM Glycine attenuates Fanconi syndrome induced by maleate or ifosfamide in rats. Kidney Int. 1996, 49:684-695.
    • (1996) Kidney Int. , vol.49 , pp. 684-695
    • Nissim, I.1    Weinberg, J.M.2
  • 180
    • 0025472206 scopus 로고
    • Prevalence and geographic distribution of Fanconi syndrome in Basenjis in the United States
    • Noonan CH, Kay JM Prevalence and geographic distribution of Fanconi syndrome in Basenjis in the United States. J. Am. Vet. Med. Assoc. 1990, 197:345-349.
    • (1990) J. Am. Vet. Med. Assoc. , vol.197 , pp. 345-349
    • Noonan, C.H.1    Kay, J.M.2
  • 181
    • 0036139676 scopus 로고    scopus 로고
    • Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome
    • Norden AG, Lapsley M, Igarashi T, et al. Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome. J. Am. Soc. Nephrol. 2002, 13:125-133.
    • (2002) J. Am. Soc. Nephrol. , vol.13 , pp. 125-133
    • Norden, A.G.1    Lapsley, M.2    Igarashi, T.3
  • 183
    • 0035923688 scopus 로고    scopus 로고
    • Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3)
    • Nykjaer A, Fyfe JC, Kozyraki R, et al. Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). Proc. Natl Acad. Sci. USA 2001, 98:13895-13900.
    • (2001) Proc. Natl Acad. Sci. USA , vol.98 , pp. 13895-13900
    • Nykjaer, A.1    Fyfe, J.C.2    Kozyraki, R.3
  • 184
    • 0023889387 scopus 로고
    • De Toni-Fanconi-Debre syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency
    • Ogier H, Lombes A, Scholte HR, et al. de Toni-Fanconi-Debre syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency. J. Pediatr. 1988, 112:734-739.
    • (1988) J. Pediatr. , vol.112 , pp. 734-739
    • Ogier, H.1    Lombes, A.2    Scholte, H.R.3
  • 185
    • 0026340890 scopus 로고
    • Fanconi's syndrome, kappa light-chain myeloma, non-amyloid fibrils and cytoplasmic crystals in renal tubular epithelium
    • Orfila C, Lepert JC, Modesto A, Bernadet P, Suc JM Fanconi's syndrome, kappa light-chain myeloma, non-amyloid fibrils and cytoplasmic crystals in renal tubular epithelium. Am. J. Nephrol. 1991, 11:345-349.
    • (1991) Am. J. Nephrol. , vol.11 , pp. 345-349
    • Orfila, C.1    Lepert, J.C.2    Modesto, A.3    Bernadet, P.4    Suc, J.M.5
  • 186
    • 0021196037 scopus 로고
    • The mechanism of decreased Na+dependent D-glucose transport in brush-border membrane vesicles from rabbit kidneys with experimental Fanconi syndrome
    • Orita Y, Fukuhara Y, Yanase M, et al. The mechanism of decreased Na+dependent D-glucose transport in brush-border membrane vesicles from rabbit kidneys with experimental Fanconi syndrome. Biochim. Biophys. Acta 1984, 771:195-200.
    • (1984) Biochim. Biophys. Acta , vol.771 , pp. 195-200
    • Orita, Y.1    Fukuhara, Y.2    Yanase, M.3
  • 187
    • 25144452430 scopus 로고    scopus 로고
    • The development of hypophosphataemic osteomalacia with myopathy in two patients with HIV infection receiving tenofovir therapy
    • Parsonage MJ, Wilkins EG, Snowden N, Issa BG, Savage MW The development of hypophosphataemic osteomalacia with myopathy in two patients with HIV infection receiving tenofovir therapy. HIV Med. 2005, 6:341-346.
    • (2005) HIV Med. , vol.6 , pp. 341-346
    • Parsonage, M.J.1    Wilkins, E.G.2    Snowden, N.3    Issa, B.G.4    Savage, M.W.5
  • 188
    • 0028040512 scopus 로고
    • Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions
    • Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum. Mol. Genet. 1994, 3:1647-1656.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1647-1656
    • Petrukhin, K.1    Lutsenko, S.2    Chernov, I.3    Ross, B.M.4    Kaplan, J.H.5    Gilliam, T.C.6
  • 191
    • 0025977277 scopus 로고
    • Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15
    • Phaneuf D, Labelle Y, Berube D, Arden K, Cavenee W, Gagne R, Tanguay RM Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. Am. J. Hum. Genet. 1991, 48:525-535.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 525-535
    • Phaneuf, D.1    Labelle, Y.2    Berube, D.3    Arden, K.4    Cavenee, W.5    Gagne, R.6    Tanguay, R.M.7
  • 192
    • 0034676433 scopus 로고    scopus 로고
    • ClC-5 Cl- channel disruption impairs endocytosis in a mouse model for Dent's disease
    • Piwon N, Gunther W, Schwake M, Bosl MR, Jentsch TJ ClC-5 Cl- channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 2000, 408:369-373.
    • (2000) Nature , vol.408 , pp. 369-373
    • Piwon, N.1    Gunther, W.2    Schwake, M.3    Bosl, M.R.4    Jentsch, T.J.5
  • 193
    • 0030031453 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome
    • Pontoglio M, Barra J, Hadchouel M, et al. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell 1996, 84:575-585.
    • (1996) Cell , vol.84 , pp. 575-585
    • Pontoglio, M.1    Barra, J.2    Hadchouel, M.3
  • 194
    • 0034304925 scopus 로고    scopus 로고
    • HNF1alpha controls renal glucose reabsorption in mouse and man
    • Pontoglio M, Prie D, Cheret C, et al. HNF1alpha controls renal glucose reabsorption in mouse and man. EMBO Rep. 2000, 1:359-365.
    • (2000) EMBO Rep. , vol.1 , pp. 359-365
    • Pontoglio, M.1    Prie, D.2    Cheret, C.3
  • 195
    • 18144452590 scopus 로고    scopus 로고
    • Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice
    • Pontoglio M, Sreenan S, Roe M, et al. Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice. J. Clin. Invest. 1998, 101:2215-2222.
    • (1998) J. Clin. Invest. , vol.101 , pp. 2215-2222
    • Pontoglio, M.1    Sreenan, S.2    Roe, M.3
  • 196
    • 0027716372 scopus 로고
    • Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22
    • Pook MA, Wrong O, Wooding C, Norden AG, Feest TG, Thakker RV Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. Hum. Mol. Genet. 1993, 2:2129-2134.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 2129-2134
    • Pook, M.A.1    Wrong, O.2    Wooding, C.3    Norden, A.G.4    Feest, T.G.5    Thakker, R.V.6
  • 197
    • 0016660035 scopus 로고
    • Intracellular pH and K+ of cardiac and skeletal muscle in acidosis and alkalosis
    • Poole-Wilson PA, Cameron IR Intracellular pH and K+ of cardiac and skeletal muscle in acidosis and alkalosis. Am. J. Physiol. 1975, 229:1305-1310.
    • (1975) Am. J. Physiol. , vol.229 , pp. 1305-1310
    • Poole-Wilson, P.A.1    Cameron, I.R.2
  • 199
    • 0023780483 scopus 로고
    • Role of Na+-H+ antiport in rat proximal tubule NaCl absorption
    • Preisig PA, Rector FC Role of Na+-H+ antiport in rat proximal tubule NaCl absorption. Am. J. Physiol. 1988, 255:F461-F465.
    • (1988) Am. J. Physiol. , vol.255
    • Preisig, P.A.1    Rector, F.C.2
  • 200
    • 0028256241 scopus 로고
    • Suramin-induced weakness from hypophosphatemia and mitochondrial myopathy. Association of suramin with mitochondrial toxicity in humans
    • Rago RP, Miles JM, Sufit RL, Spriggs DR, Wilding G Suramin-induced weakness from hypophosphatemia and mitochondrial myopathy. Association of suramin with mitochondrial toxicity in humans. Cancer 1994, 73:1954-1959.
    • (1994) Cancer , vol.73 , pp. 1954-1959
    • Rago, R.P.1    Miles, J.M.2    Sufit, R.L.3    Spriggs, D.R.4    Wilding, G.5
  • 201
    • 0014246653 scopus 로고
    • Effect of hydrochlorothiazide on proximal renal tubular acidosis in a patient with idiopathic "de tonidebre-fanconi syndrome"
    • Rampini S, Fanconi A, Illig R, Prader A Effect of hydrochlorothiazide on proximal renal tubular acidosis in a patient with idiopathic "de tonidebre-fanconi syndrome". Helv. Paediatr. Acta 1968, 23:13-21.
    • (1968) Helv. Paediatr. Acta , vol.23 , pp. 13-21
    • Rampini, S.1    Fanconi, A.2    Illig, R.3    Prader, A.4
  • 202
    • 0020760915 scopus 로고
    • Sodium, bicarbonate, and chloride absorption by the proximal tubule
    • Rector FC Sodium, bicarbonate, and chloride absorption by the proximal tubule. Am. J. Physiol. 1983, 244:F461-F471.
    • (1983) Am. J. Physiol. , vol.244
    • Rector, F.C.1
  • 203
    • 0030608877 scopus 로고    scopus 로고
    • Identification of EBP50: A PDZ-containing phosphoprotein that associates with members of the ezrinradixin-moesin family
    • Reczek D, Berryman M, Bretscher A Identification of EBP50: A PDZ-containing phosphoprotein that associates with members of the ezrinradixin-moesin family. J. Cell. Biol. 1997, 139:169-179.
    • (1997) J. Cell. Biol. , vol.139 , pp. 169-179
    • Reczek, D.1    Berryman, M.2    Bretscher, A.3
  • 204
    • 0026511635 scopus 로고
    • Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia
    • Reichardt JK, Belmont JW, Levy HL, Woo SL Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. Genomics 1992, 12:596-600.
    • (1992) Genomics , vol.12 , pp. 596-600
    • Reichardt, J.K.1    Belmont, J.W.2    Levy, H.L.3    Woo, S.L.4
  • 205
    • 0023886702 scopus 로고
    • Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase
    • Reichardt JK, Berg P Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase. Mol. Biol. Med. 1988, 5:107-122.
    • (1988) Mol. Biol. Med. , vol.5 , pp. 107-122
    • Reichardt, J.K.1    Berg, P.2
  • 206
    • 0027154902 scopus 로고
    • Renal complications in glycogen storage disease type I
    • Reitsma-Bierens WC Renal complications in glycogen storage disease type I. Eur. J. Pediatr. 1993, 152(Suppl 1):S60-S62.
    • (1993) Eur. J. Pediatr. , vol.152 , Issue.SUPPL.1
    • Reitsma-Bierens, W.C.1
  • 207
    • 0017839570 scopus 로고
    • On the maleic acid induced Fanconi syndrome: effects on transport by isolated rat kidney brushborder membrane vesicles
    • Reynolds R, McNamara PD, Segal S On the maleic acid induced Fanconi syndrome: effects on transport by isolated rat kidney brushborder membrane vesicles. Life Sci. 1978, 22:39-43.
    • (1978) Life Sci. , vol.22 , pp. 39-43
    • Reynolds, R.1    McNamara, P.D.2    Segal, S.3
  • 210
    • 0034320619 scopus 로고    scopus 로고
    • Plasma cell dyscrasia-related glomerulopathies and Fanconi's syndrome: a molecular approach
    • Ronco P, Aucouturier P, Mougenot B Plasma cell dyscrasia-related glomerulopathies and Fanconi's syndrome: a molecular approach. J. Nephrol. 2000, 13(Suppl 3):S34-S44.
    • (2000) J. Nephrol. , vol.13 , Issue.SUPPL.3
    • Ronco, P.1    Aucouturier, P.2    Mougenot, B.3
  • 211
    • 0015906720 scopus 로고
    • Experimental Fanconi syndrome. II. Effect of maleic acid on renal tubular ultrastructure
    • Rosen VJ, Kramer HJ, Gonick HC Experimental Fanconi syndrome. II. Effect of maleic acid on renal tubular ultrastructure. Lab. Invest. 1973, 28:446-455.
    • (1973) Lab. Invest. , vol.28 , pp. 446-455
    • Rosen, V.J.1    Kramer, H.J.2    Gonick, H.C.3
  • 212
    • 0030971349 scopus 로고    scopus 로고
    • Nephrotoxicity of ifosfamide - moving towards understanding the molecular mechanisms
    • Rossi R Nephrotoxicity of ifosfamide - moving towards understanding the molecular mechanisms. Nephrol. Dial. Transplant. 1997, 12:1091-1092.
    • (1997) Nephrol. Dial. Transplant. , vol.12 , pp. 1091-1092
    • Rossi, R.1
  • 213
    • 0033049763 scopus 로고    scopus 로고
    • Development of ifosfamide-induced nephrotoxicity: prospective follow-up in 75 patients
    • Rossi R, Pleyer J, Schafers P, et al. Development of ifosfamide-induced nephrotoxicity: prospective follow-up in 75 patients. Med. Pediatr. Oncol. 1999, 32:177-182.
    • (1999) Med. Pediatr. Oncol. , vol.32 , pp. 177-182
    • Rossi, R.1    Pleyer, J.2    Schafers, P.3
  • 214
    • 0024790975 scopus 로고
    • Renal Fanconi syndrome: developmental basis for a new animal model with relevance to human disease
    • Roth KS, Medow MS, Moses LC, Spencer PD, Schwarz SM Renal Fanconi syndrome: developmental basis for a new animal model with relevance to human disease. Biochim. Biophys. Acta 1989, 987:38-46.
    • (1989) Biochim. Biophys. Acta , vol.987 , pp. 38-46
    • Roth, K.S.1    Medow, M.S.2    Moses, L.C.3    Spencer, P.D.4    Schwarz, S.M.5
  • 215
    • 0025061933 scopus 로고
    • Visceral pathology of hereditary tyrosinemia type I
    • Russo P, O'Regan S Visceral pathology of hereditary tyrosinemia type I. Am. J. Hum. Genet. 1990, 47:317-324.
    • (1990) Am. J. Hum. Genet. , vol.47 , pp. 317-324
    • Russo, P.1    O'Regan, S.2
  • 216
    • 0022083214 scopus 로고
    • ATP-dependent H+ pump in membrane vesicles from rat kidney cortex
    • Sabolic I, Haase W, Burckhardt G ATP-dependent H+ pump in membrane vesicles from rat kidney cortex. Am. J. Physiol. 1985, 248:F835-F844.
    • (1985) Am. J. Physiol. , vol.248
    • Sabolic, I.1    Haase, W.2    Burckhardt, G.3
  • 217
    • 29244491956 scopus 로고    scopus 로고
    • Loss of basolateral invaginations in proximal tubules of cadmium-intoxicated rats is independent of microtubules and clathrin
    • Sabolic I, Herak-Kramberger CM, Antolovic R, Breton S, Brown D Loss of basolateral invaginations in proximal tubules of cadmium-intoxicated rats is independent of microtubules and clathrin. Toxicology 2006, 218:149-163.
    • (2006) Toxicology , vol.218 , pp. 149-163
    • Sabolic, I.1    Herak-Kramberger, C.M.2    Antolovic, R.3    Breton, S.4    Brown, D.5
  • 219
  • 220
    • 0033762207 scopus 로고    scopus 로고
    • Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome
    • Sakamoto O, Ogawa E, Ohura T, et al. Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. Pediatr. Res. 2000, 48:586-589.
    • (2000) Pediatr. Res. , vol.48 , pp. 586-589
    • Sakamoto, O.1    Ogawa, E.2    Ohura, T.3
  • 221
    • 0026494516 scopus 로고
    • Intracellular cystine loading causes proximal tubule respiratory dysfunction: effect of glycine
    • Sakarcan A, Aricheta R, Baum M Intracellular cystine loading causes proximal tubule respiratory dysfunction: effect of glycine. Pediatr. Res. 1992, 32:710-713.
    • (1992) Pediatr. Res. , vol.32 , pp. 710-713
    • Sakarcan, A.1    Aricheta, R.2    Baum, M.3
  • 222
    • 0028330020 scopus 로고
    • Intracellular distribution of cystine in cystine-loaded proximal tubules
    • Sakarcan A, Timmons C, Baum M Intracellular distribution of cystine in cystine-loaded proximal tubules. Pediatr. Res. 1994, 35:447-450.
    • (1994) Pediatr. Res. , vol.35 , pp. 447-450
    • Sakarcan, A.1    Timmons, C.2    Baum, M.3
  • 223
    • 0025117493 scopus 로고
    • Intracellular cystine loading inhibits transport in the rabbit proximal convoluted tubule
    • Salmon RF, Baum M Intracellular cystine loading inhibits transport in the rabbit proximal convoluted tubule. J. Clin. Invest. 1990, 85:340-344.
    • (1990) J. Clin. Invest. , vol.85 , pp. 340-344
    • Salmon, R.F.1    Baum, M.2
  • 224
    • 0036461262 scopus 로고    scopus 로고
    • The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome
    • Santer R, Groth S, Kinner M, et al. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum. Genet. 2002, 110:21-29.
    • (2002) Hum. Genet. , vol.110 , pp. 21-29
    • Santer, R.1    Groth, S.2    Kinner, M.3
  • 225
    • 0030667885 scopus 로고    scopus 로고
    • Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome
    • Santer R, Schneppenheim R, Dombrowski A, Gotze H, Steinmann B, Schaub J Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat. Genet. 1997, 17:324-326.
    • (1997) Nat. Genet. , vol.17 , pp. 324-326
    • Santer, R.1    Schneppenheim, R.2    Dombrowski, A.3    Gotze, H.4    Steinmann, B.5    Schaub, J.6
  • 226
    • 0031879233 scopus 로고    scopus 로고
    • Fanconi-Bickel syndrome - a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism
    • Santer R, Schneppenheim R, Dombrowski A, Gotze H, Steinmann B, Schaub J Fanconi-Bickel syndrome - a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism. J. Inherit. Metab. Dis. 1998, 21:191-194.
    • (1998) J. Inherit. Metab. Dis. , vol.21 , pp. 191-194
    • Santer, R.1    Schneppenheim, R.2    Dombrowski, A.3    Gotze, H.4    Steinmann, B.5    Schaub, J.6
  • 227
    • 0031705401 scopus 로고    scopus 로고
    • Fanconi-Bickel syndrome - the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
    • Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B Fanconi-Bickel syndrome - the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Eur. J. Pediatr. 1998, 157:783-797.
    • (1998) Eur. J. Pediatr. , vol.157 , pp. 783-797
    • Santer, R.1    Schneppenheim, R.2    Suter, D.3    Schaub, J.4    Steinmann, B.5
  • 228
    • 0015270137 scopus 로고
    • Impaired renal gluconeogenesis and energy metabolism in maleic acid-induced nephropathy in rats
    • Scharer K, Yoshida T, Voyer L, Berlow S, Pietra G, Metcoff J Impaired renal gluconeogenesis and energy metabolism in maleic acid-induced nephropathy in rats. Res. Exp. Med. (Berl.) 1972, 157:136-152.
    • (1972) Res. Exp. Med. (Berl.) , vol.157 , pp. 136-152
    • Scharer, K.1    Yoshida, T.2    Voyer, L.3    Berlow, S.4    Pietra, G.5    Metcoff, J.6
  • 229
    • 0031888274 scopus 로고    scopus 로고
    • X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations
    • Scheinman SJ X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int. 1998, 53:3-17.
    • (1998) Kidney Int. , vol.53 , pp. 3-17
    • Scheinman, S.J.1
  • 231
    • 0015152504 scopus 로고
    • Renal clearances of different amino acids in Wilson's disease before and after treatment with penicillamine
    • Schonheyder F, Gregersen G, Hansen HE, Skov PE Renal clearances of different amino acids in Wilson's disease before and after treatment with penicillamine. Acta Med. Scand. 1971, 190:395-399.
    • (1971) Acta Med. Scand. , vol.190 , pp. 395-399
    • Schonheyder, F.1    Gregersen, G.2    Hansen, H.E.3    Skov, P.E.4
  • 232
    • 0014976595 scopus 로고
    • On the mechanism of renal potassium wasting in renal tubular acidosis associated with the Fanconi syndrome (type 2 RTA)
    • Sebastian A, McSherry E, Morris RC On the mechanism of renal potassium wasting in renal tubular acidosis associated with the Fanconi syndrome (type 2 RTA). J. Clin. Invest. 1971, 50:231-243.
    • (1971) J. Clin. Invest. , vol.50 , pp. 231-243
    • Sebastian, A.1    McSherry, E.2    Morris, R.C.3
  • 233
    • 0015028540 scopus 로고
    • Renal potassium wasting in renal tubular acidosis (RTA): its occurrence in types 1 and 2 RTA despite sustained correction of systemic acidosis
    • Sebastian A, McSherry E, Morris RC Renal potassium wasting in renal tubular acidosis (RTA): its occurrence in types 1 and 2 RTA despite sustained correction of systemic acidosis. J. Clin. Invest. 1971, 50:667-678.
    • (1971) J. Clin. Invest. , vol.50 , pp. 667-678
    • Sebastian, A.1    McSherry, E.2    Morris, R.C.3
  • 234
    • 0028544584 scopus 로고
    • Fanconi syndrome in a Labrador retriever
    • Settles EL, Schmidt D Fanconi syndrome in a Labrador retriever. J. Vet. Intern. Med. 1994, 8:390-393.
    • (1994) J. Vet. Intern. Med. , vol.8 , pp. 390-393
    • Settles, E.L.1    Schmidt, D.2
  • 235
    • 0033063064 scopus 로고    scopus 로고
    • Neonatal rabbit proximal tubule basolateral membrane Na+/H+ antiporter and Cl-/base exchange
    • Shah M, Quigley R, Baum M Neonatal rabbit proximal tubule basolateral membrane Na+/H+ antiporter and Cl-/base exchange. Am. J. Physiol. 1999, 276:R1792-R1797.
    • (1999) Am. J. Physiol. , vol.276
    • Shah, M.1    Quigley, R.2    Baum, M.3
  • 236
    • 0018306846 scopus 로고
    • Metachromatic leukodystrophy without arylsulfatase A deficiency
    • Shapiro LJ, Aleck KA, Kaback MM, et al. Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr. Res. 1979, 13:1179-1181.
    • (1979) Pediatr. Res. , vol.13 , pp. 1179-1181
    • Shapiro, L.J.1    Aleck, K.A.2    Kaback, M.M.3
  • 237
    • 0037143761 scopus 로고    scopus 로고
    • Targeted disruption of the mouse NHERF-1 gene promotes internalization of proximal tubule sodium-phosphate cotransporter type IIa and renal phosphate wasting
    • Shenolikar S, Voltz JW, Minkoff CM, Wade JB, Weinman EJ Targeted disruption of the mouse NHERF-1 gene promotes internalization of proximal tubule sodium-phosphate cotransporter type IIa and renal phosphate wasting. Proc. Natl Acad. Sci. USA 2002, 99:11470-11475.
    • (2002) Proc. Natl Acad. Sci. USA , vol.99 , pp. 11470-11475
    • Shenolikar, S.1    Voltz, J.W.2    Minkoff, C.M.3    Wade, J.B.4    Weinman, E.J.5
  • 238
    • 0023122081 scopus 로고
    • Effect of bicarbonate and phosphate on renal phosphate leak in experimental Fanconi syndrome
    • Shvil Y, Wald H, Popovtzer MM Effect of bicarbonate and phosphate on renal phosphate leak in experimental Fanconi syndrome. Am. J. Physiol. 1987, 252:F310-F316.
    • (1987) Am. J. Physiol. , vol.252
    • Shvil, Y.1    Wald, H.2    Popovtzer, M.M.3
  • 239
    • 0019434314 scopus 로고
    • The mechanism of maleic acid nephropathy: investigations using brush border membrane vesicles
    • Silverman M The mechanism of maleic acid nephropathy: investigations using brush border membrane vesicles. Membr. Biochem. 1981, 4:63-69.
    • (1981) Membr. Biochem. , vol.4 , pp. 63-69
    • Silverman, M.1
  • 240
    • 33745952571 scopus 로고    scopus 로고
    • Role of the monoclonal kappa chain V domain and reversibility of renal damage in a transgenic model of acquired Fanconi syndrome
    • Sirac C, Bridoux F, Carrion C, et al. Role of the monoclonal kappa chain V domain and reversibility of renal damage in a transgenic model of acquired Fanconi syndrome. Blood 2006, 108:536-543.
    • (2006) Blood , vol.108 , pp. 536-543
    • Sirac, C.1    Bridoux, F.2    Carrion, C.3
  • 241
    • 0042343605 scopus 로고    scopus 로고
    • Chronic ifosfamide nephrotoxicity in children
    • Skinner R Chronic ifosfamide nephrotoxicity in children. Med. Pediatr. Oncol. 2003, 41:190-197.
    • (2003) Med. Pediatr. Oncol. , vol.41 , pp. 190-197
    • Skinner, R.1
  • 242
    • 0028945343 scopus 로고
    • Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome
    • Sliman GA, Winters WD, Shaw DW, Avner ED Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. J. Urol. 1995, 153:1244-1246.
    • (1995) J. Urol. , vol.153 , pp. 1244-1246
    • Sliman, G.A.1    Winters, W.D.2    Shaw, D.W.3    Avner, E.D.4
  • 243
    • 0023771193 scopus 로고
    • Effects of succinylacetone on the uptake of sugars and amino acids by brush border vesicles
    • Spencer PD, Medow MS, Moses LC, Roth KS Effects of succinylacetone on the uptake of sugars and amino acids by brush border vesicles. Kidney Int. 1988, 34:671-677.
    • (1988) Kidney Int. , vol.34 , pp. 671-677
    • Spencer, P.D.1    Medow, M.S.2    Moses, L.C.3    Roth, K.S.4
  • 245
    • 0019789442 scopus 로고
    • Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy
    • Stevens RL, Fluharty AL, Kihara H, et al. Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. Am. J. Hum. Genet. 1981, 33:900-906.
    • (1981) Am. J. Hum. Genet. , vol.33 , pp. 900-906
    • Stevens, R.L.1    Fluharty, A.L.2    Kihara, H.3
  • 246
    • 0036882117 scopus 로고    scopus 로고
    • The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization
    • Suchy SF, Nussbaum RL The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Am. J. Hum. Genet. 2002, 71:1420-1427.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1420-1427
    • Suchy, S.F.1    Nussbaum, R.L.2
  • 247
    • 0033959638 scopus 로고    scopus 로고
    • A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice
    • Sun MS, Hattori S, Kubo S, Awata H, Matsuda I, Endo F A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice. J. Am. Soc. Nephrol. 2000, 11:291-300.
    • (2000) J. Am. Soc. Nephrol. , vol.11 , pp. 291-300
    • Sun, M.S.1    Hattori, S.2    Kubo, S.3    Awata, H.4    Matsuda, I.5    Endo, F.6
  • 248
    • 0019319464 scopus 로고
    • Regulation of cellular energy metabolism: the Crabtree effect
    • Sussman I, Erecinska M, Wilson DF Regulation of cellular energy metabolism: the Crabtree effect. Biochim. Biophys. Acta 1980, 591:209-223.
    • (1980) Biochim. Biophys. Acta , vol.591 , pp. 209-223
    • Sussman, I.1    Erecinska, M.2    Wilson, D.F.3
  • 251
    • 0141786874 scopus 로고    scopus 로고
    • Mouse kidney expresses mRNA of four highly related sodium-glucose cotransporters: regulation by cadmium
    • Tabatabai NM, Blumenthal SS, Lewand DL, Petering DH Mouse kidney expresses mRNA of four highly related sodium-glucose cotransporters: regulation by cadmium. Kidney Int. 2003, 64:1320-1330.
    • (2003) Kidney Int. , vol.64 , pp. 1320-1330
    • Tabatabai, N.M.1    Blumenthal, S.S.2    Lewand, D.L.3    Petering, D.H.4
  • 252
    • 12344305384 scopus 로고    scopus 로고
    • Adverse effect of cadmium on binding of transcription factor Sp1 to the GC-rich regions of the mouse sodium-glucose cotransporter 1, SGLT1, promoter
    • Tabatabai NM, Blumenthal SS, Petering DH Adverse effect of cadmium on binding of transcription factor Sp1 to the GC-rich regions of the mouse sodium-glucose cotransporter 1, SGLT1, promoter. Toxicology 2005, 207:369-382.
    • (2005) Toxicology , vol.207 , pp. 369-382
    • Tabatabai, N.M.1    Blumenthal, S.S.2    Petering, D.H.3
  • 253
    • 0028930095 scopus 로고
    • Potassium secretion is inhibited by metabolic acidosis in rabbit cortical collecting ducts in vitro
    • Tabei K, Muto S, Furuya H, Sakairi Y, Ando Y, Asano Y Potassium secretion is inhibited by metabolic acidosis in rabbit cortical collecting ducts in vitro. Am. J. Physiol. 1995, 268:F490-F495.
    • (1995) Am. J. Physiol. , vol.268
    • Tabei, K.1    Muto, S.2    Furuya, H.3    Sakairi, Y.4    Ando, Y.5    Asano, Y.6
  • 254
    • 0014459208 scopus 로고
    • De Toni-Debre-Fanconi syndrome in Wilson's disease
    • Tabet M De Toni-Debre-Fanconi syndrome in Wilson's disease. J. Med. Liban. 1969, 22:55-65.
    • (1969) J. Med. Liban. , vol.22 , pp. 55-65
    • Tabet, M.1
  • 255
    • 0034072595 scopus 로고    scopus 로고
    • Chinese herb nephropathy in Japan presents adult-onset Fanconi syndrome: could different components of aristolochic acids cause a different type of Chinese herb nephropathy?
    • Tanaka A, Nishida R, Maeda K, Sugawara A, Kuwahara T Chinese herb nephropathy in Japan presents adult-onset Fanconi syndrome: could different components of aristolochic acids cause a different type of Chinese herb nephropathy?. Clin. Nephrol. 2000, 53:301-306.
    • (2000) Clin. Nephrol. , vol.53 , pp. 301-306
    • Tanaka, A.1    Nishida, R.2    Maeda, K.3    Sugawara, A.4    Kuwahara, T.5
  • 259
    • 0022728428 scopus 로고
    • Characterization of the human aldolase B gene
    • Tolan DR, Penhoet EE Characterization of the human aldolase B gene. Mol. Biol. Med. 1986, 3:245-264.
    • (1986) Mol. Biol. Med. , vol.3 , pp. 245-264
    • Tolan, D.R.1    Penhoet, E.E.2
  • 260
    • 0031945551 scopus 로고    scopus 로고
    • A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
    • Town M, Jean G, Cherqui S, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat. Genet. 1998, 18:319-324.
    • (1998) Nat. Genet. , vol.18 , pp. 319-324
    • Town, M.1    Jean, G.2    Cherqui, S.3
  • 261
    • 27844563604 scopus 로고    scopus 로고
    • Nephrolithiasis in a worker with cadmium exposure in the past
    • Trevisan A, Gardin C Nephrolithiasis in a worker with cadmium exposure in the past. Int. Arch. Occup. Environ. Health 2005, 78:670-672.
    • (2005) Int. Arch. Occup. Environ. Health , vol.78 , pp. 670-672
    • Trevisan, A.1    Gardin, C.2
  • 262
    • 0024407195 scopus 로고
    • Cytoplasmic crystals in multiple myeloma-associated Fanconi's syndrome. A morphological study including immunoelectron microscopy
    • Truong LD, Mawad J, Cagle P, Mattioli C Cytoplasmic crystals in multiple myeloma-associated Fanconi's syndrome. A morphological study including immunoelectron microscopy. Arch. Pathol. Lab. Med. 1989, 113:781-785.
    • (1989) Arch. Pathol. Lab. Med. , vol.113 , pp. 781-785
    • Truong, L.D.1    Mawad, J.2    Cagle, P.3    Mattioli, C.4
  • 263
    • 25444453789 scopus 로고    scopus 로고
    • An unusual cause of hypokalemic paralysis: aristolochic acid nephropathy with Fanconi syndrome
    • Tsai CS, Chen YC, Chen HH, Cheng CJ, Lin SH An unusual cause of hypokalemic paralysis: aristolochic acid nephropathy with Fanconi syndrome. Am. J. Med. Sci. 2005, 330:153-155.
    • (2005) Am. J. Med. Sci. , vol.330 , pp. 153-155
    • Tsai, C.S.1    Chen, Y.C.2    Chen, H.H.3    Cheng, C.J.4    Lin, S.H.5
  • 264
    • 0021913362 scopus 로고
    • Mechanism of action of indomethacin in tubular defects
    • Usberti M, Pecoraro C, Federico S, et al. Mechanism of action of indomethacin in tubular defects. Pediatrics 1985, 75:501-507.
    • (1985) Pediatrics , vol.75 , pp. 501-507
    • Usberti, M.1    Pecoraro, C.2    Federico, S.3
  • 265
    • 3042704362 scopus 로고    scopus 로고
    • The C. elegans ezrin-radixin-moesin protein ERM-1 is necessary for apical junction remodelling and tubulogenesis in the intestine
    • Van Furden D, Johnson K, Segbert C, Bossinger O The C. elegans ezrin-radixin-moesin protein ERM-1 is necessary for apical junction remodelling and tubulogenesis in the intestine. Dev. Biol. 2004, 272:262-276.
    • (2004) Dev. Biol. , vol.272 , pp. 262-276
    • Van Furden, D.1    Johnson, K.2    Segbert, C.3    Bossinger, O.4
  • 267
    • 0034642297 scopus 로고    scopus 로고
    • Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis
    • Wang SS, Devuyst O, Courtoy PJ, et al. Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum. Mol. Genet. 2000, 9:2937-2945.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2937-2945
    • Wang, S.S.1    Devuyst, O.2    Courtoy, P.J.3
  • 271
    • 20544445415 scopus 로고    scopus 로고
    • Hereditary fructose intolerance
    • Wong D Hereditary fructose intolerance. Mol. Genet. Metab. 2005, 85:165-167.
    • (2005) Mol. Genet. Metab. , vol.85 , pp. 165-167
    • Wong, D.1
  • 273
    • 0026751864 scopus 로고
    • Physiological basis for an animal model of the renal Fanconi syndrome: use of succinylacetone in the rat
    • Wyss PA, Boynton SB, Chu J, Spencer RF, Roth KS Physiological basis for an animal model of the renal Fanconi syndrome: use of succinylacetone in the rat. Clin. Sci. (Lond) 1992, 83:81-87.
    • (1992) Clin. Sci. (Lond) , vol.83 , pp. 81-87
    • Wyss, P.A.1    Boynton, S.B.2    Chu, J.3    Spencer, R.F.4    Roth, K.S.5
  • 275
    • 10544249874 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
    • Yamagata K, Oda N, Kaisaki PJ, et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996, 384:455-458.
    • (1996) Nature , vol.384 , pp. 455-458
    • Yamagata, K.1    Oda, N.2    Kaisaki, P.J.3
  • 276
    • 0020512291 scopus 로고
    • Decreased Na+-gradient-dependent D-glucose transport in brush-border membrane vesicles from rabbits with experimental Fanconi syndrome
    • Yanase M, Orita Y, Okada N, et al. Decreased Na+-gradient-dependent D-glucose transport in brush-border membrane vesicles from rabbits with experimental Fanconi syndrome. Biochim. Biophys. Acta 1983, 733:95-101.
    • (1983) Biochim. Biophys. Acta , vol.733 , pp. 95-101
    • Yanase, M.1    Orita, Y.2    Okada, N.3
  • 277
    • 0036519048 scopus 로고    scopus 로고
    • Aristolochic acid-induced Fanconi's syndrome and nephropathy presenting as hypokalemic paralysis
    • Yang SS, Chu P, Lin YF, Chen A, Lin SH Aristolochic acid-induced Fanconi's syndrome and nephropathy presenting as hypokalemic paralysis. Am. J. Kidney Dis. 2002, 39:E14.
    • (2002) Am. J. Kidney Dis. , vol.39
    • Yang, S.S.1    Chu, P.2    Lin, Y.F.3    Chen, A.4    Lin, S.H.5
  • 278
    • 84882822364 scopus 로고    scopus 로고
    • Acquired hypo-phosphatemia osteomalacia associated with Fanconi's syndrome in Sjogren's syndrome
    • Yang YS, Peng CH, Sia SK, Huang CN Acquired hypo-phosphatemia osteomalacia associated with Fanconi's syndrome in Sjogren's syndrome. Rheumatol Int. 2006.
    • (2006) Rheumatol Int.
    • Yang, Y.S.1    Peng, C.H.2    Sia, S.K.3    Huang, C.N.4
  • 279
    • 3342936543 scopus 로고    scopus 로고
    • Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome
    • Yearley JH, Hancock DD, Mealey KL Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome. J. Am. Vet. Med. Assoc. 2004, 225:377-383.
    • (2004) J. Am. Vet. Med. Assoc. , vol.225 , pp. 377-383
    • Yearley, J.H.1    Hancock, D.D.2    Mealey, K.L.3
  • 280
    • 0033612533 scopus 로고    scopus 로고
    • Direct involvement of ezrin/radixin/moesin (ERM)-binding membrane proteins in the organization of microvilli in collaboration with activated ERM proteins
    • Yonemura S, Tsukita S, Tsukita S Direct involvement of ezrin/radixin/moesin (ERM)-binding membrane proteins in the organization of microvilli in collaboration with activated ERM proteins. J. Cell. Biol. 1999, 145:1497-1509.
    • (1999) J. Cell. Biol. , vol.145 , pp. 1497-1509
    • Yonemura, S.1    Tsukita, S.2    Tsukita, S.3
  • 281
    • 0021856785 scopus 로고
    • Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient
    • Zeviani M, Nonaka I, Bonilla E, et al. Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient. Ann. Neurol. 1985, 17:414-417.
    • (1985) Ann. Neurol. , vol.17 , pp. 414-417
    • Zeviani, M.1    Nonaka, I.2    Bonilla, E.3


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