-
1
-
-
33749025551
-
Bartter syndromes and other salt-losing tubulopathies
-
Kleta R, Bockenhauer D. Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol 2006; 104: p73-p80
-
(2006)
Nephron Physiol
, vol.104
, pp. p73-p80
-
-
Kleta, R.1
Bockenhauer, D.2
-
2
-
-
57049184564
-
Antenatal Bartter's syndrome: Why is this not a lethal condition
-
Bockenhauer D, Cruwys M, Kleta R et al. Antenatal Bartter's syndrome: why is this not a lethal condition? QJM 2008; 101: 927-942
-
(2008)
QJM
, vol.101
, pp. 927-942
-
-
Bockenhauer, D.1
Cruwys, M.2
Kleta, R.3
-
3
-
-
84930449756
-
Short-term functional adaptation of aquaporin-1 surface expression in the proximal tubule, a component of glomerulotubular balance
-
Pohl M, Shan Q, Petsch T et al. Short-term functional adaptation of aquaporin-1 surface expression in the proximal tubule, a component of glomerulotubular balance. J Am Soc Nephrol 2015; 26: 1269-1278
-
(2015)
J Am Soc Nephrol
, vol.26
, pp. 1269-1278
-
-
Pohl, M.1
Shan, Q.2
Petsch, T.3
-
4
-
-
41449098980
-
Aminoacidurias: Clinical and molecular aspects
-
Camargo SM, Bockenhauer D, Kleta R. Aminoacidurias: clinical and molecular aspects. Kidney Int 2008; 73: 918-925
-
(2008)
Kidney Int
, vol.73
, pp. 918-925
-
-
Camargo, S.M.1
Bockenhauer, D.2
Kleta, R.3
-
5
-
-
0033454637
-
Pathophysiology and functional significance of apical membrane disruption during ischemia
-
Ashworth SL, Molitoris BA. Pathophysiology and functional significance of apical membrane disruption during ischemia. Curr Opin Nephrol Hypertens 1999; 8: 449-458
-
(1999)
Curr Opin Nephrol Hypertens
, vol.8
, pp. 449-458
-
-
Ashworth, S.L.1
Molitoris, B.A.2
-
7
-
-
50549127522
-
On a form of late rickets associated with albuminuria, rickets of adolescence
-
Lucas RC. On a form of late rickets associated with albuminuria, rickets of adolescence. Lancet 1883: 993-994
-
(1883)
Lancet
, pp. 993-994
-
-
Lucas, R.C.1
-
8
-
-
0012954799
-
Die nicht diabetischen Glykosurien und Hyperglykaemien des aelteren Kindes
-
Fanconi G. Die nicht diabetischen Glykosurien und Hyperglykaemien des aelteren Kindes. Jahrbuch fuer Kinderheilkunde 1931; 133: 257-300
-
(1931)
Jahrbuch fuer Kinderheilkunde
, vol.133
, pp. 257-300
-
-
Fanconi, G.1
-
9
-
-
0037485490
-
Remarks on the relationship between renal rickets (renal dwarfism) and renal diabetes
-
de Toni G. Remarks on the relationship between renal rickets (renal dwarfism) and renal diabetes. Acta Pediatr 1933; 16: 479-484
-
(1933)
Acta Pediatr
, vol.16
, pp. 479-484
-
-
De Toni, G.1
-
10
-
-
0037485489
-
Rachitisme tardif coexistant avec une Nephrite chronique et une Glycosurie
-
Debre R, Marie J, Cleret F et al. Rachitisme tardif coexistant avec une Nephrite chronique et une Glycosurie. Archive de Medicine des Enfants 1934; 37: 597-606
-
(1934)
Archive de Medicine des Enfants
, vol.37
, pp. 597-606
-
-
Debre, R.1
Marie, J.2
Cleret, F.3
-
11
-
-
0012023222
-
Der nephrotisch-glykosurische Zwergwuchs mit hypophosphataemischer Rachitis
-
Fanconi G. Der nephrotisch-glykosurische Zwergwuchs mit hypophosphataemischer Rachitis. Deutsche Medizinische Wochenschrift 1936; 62: 1169-1171
-
(1936)
Deutsche Medizinische Wochenschrift
, vol.62
, pp. 1169-1171
-
-
Fanconi, G.1
-
12
-
-
1442306831
-
Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis
-
Kleta R, Blair SC, Bernardini I et al. Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis. Mayo Clin Proc 2004; 79: 410-412
-
(2004)
Mayo Clin Proc
, vol.79
, pp. 410-412
-
-
Kleta, R.1
Blair, S.C.2
Bernardini, I.3
-
13
-
-
84884161341
-
Acquired Fanconi syndrome secondary to monoclonal gammopathies: A case series from a single center
-
Magnano L, Fernandez de Larrea C, Cibeira MT et al. Acquired Fanconi syndrome secondary to monoclonal gammopathies: a case series from a single center. Clin Lymphoma Myeloma Leuk 2013; 13: 614-618
-
(2013)
Clin Lymphoma Myeloma Leuk
, vol.13
, pp. 614-618
-
-
Magnano, L.1
Fernandez, D.L.C.2
Cibeira, M.T.3
-
14
-
-
79551471490
-
Toward understanding renal Fanconi syndrome: Step by step advances through experimental models
-
Sirac C, Bridoux F, Essig M et al. Toward understanding renal Fanconi syndrome: step by step advances through experimental models. Contrib Nephrol 2011; 169: 247-261
-
(2011)
Contrib Nephrol
, vol.169
, pp. 247-261
-
-
Sirac, C.1
Bridoux, F.2
Essig, M.3
-
15
-
-
53749090368
-
Renal phenotype in Lowe Syndrome: A selective proximal tubular dysfunction
-
Bockenhauer D, Bokenkamp A, van't Hoff W et al. Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol 2008; 3: 1430-1436
-
(2008)
Clin J Am Soc Nephrol
, vol.3
, pp. 1430-1436
-
-
Bockenhauer, D.1
Bokenkamp, A.2
Van't Hoff, W.3
-
16
-
-
53749097351
-
Fanconi or not Fanconi? Lowe syndrome revisited
-
Kleta R. Fanconi or not Fanconi? Lowe syndrome revisited. Clin J Am Soc Nephrol 2008; 3: 1244-1245
-
(2008)
Clin J Am Soc Nephrol
, vol.3
, pp. 1244-1245
-
-
Kleta, R.1
-
17
-
-
84894418984
-
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype
-
Hamilton AJ, Bingham C, McDonald TJ et al. The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype. J Med Genet 2014; 51: 165-169
-
(2014)
J Med Genet
, vol.51
, pp. 165-169
-
-
Hamilton, A.J.1
Bingham, C.2
McDonald, T.J.3
-
18
-
-
0035158542
-
Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3
-
Lichter-Konecki U, Broman KW, Blau EB et al. Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3. Am J Hum Genet 2001; 68: 264-268
-
(2001)
Am J Hum Genet
, vol.68
, pp. 264-268
-
-
Lichter-Konecki, U.1
Broman, K.W.2
Blau, E.B.3
-
19
-
-
0345146202
-
A familial tubular absorption defect of glucose and amino acids
-
Luder J, Sheldon W. A familial tubular absorption defect of glucose and amino acids. Arch Dis Child 1955; 30: 160-164
-
(1955)
Arch Dis Child
, vol.30
, pp. 160-164
-
-
Luder, J.1
Sheldon, W.2
-
20
-
-
2542581173
-
A familial tubular absorption defect of glucose and amino acids
-
Sheldon W, Luder J, Webb B. A familial tubular absorption defect of glucose and amino acids. Arch Dis Child 1961; 36: 90-95
-
(1961)
Arch Dis Child
, vol.36
, pp. 90-95
-
-
Sheldon, W.1
Luder, J.2
Webb, B.3
-
21
-
-
0024509648
-
Two case studies from a family with primary Fanconi syndrome
-
Wen SF, Friedman AL, Oberley TD. Two case studies from a family with primary Fanconi syndrome. Am J Kidney Dis 1989; 13: 240-246
-
(1989)
Am J Kidney Dis
, vol.13
, pp. 240-246
-
-
Wen, S.F.1
Friedman, A.L.2
Oberley, T.D.3
-
22
-
-
0023681511
-
Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome
-
Tieder M, Arie R, Modai D et al. Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome. N Engl J Med 1988; 319: 845-849
-
(1988)
N Engl J Med
, vol.319
, pp. 845-849
-
-
Tieder, M.1
Arie, R.2
Modai, D.3
-
23
-
-
77950250437
-
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome
-
Magen D, Berger L, Coady MJ et al. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. N Engl J Med 2010; 362: 1102-1109
-
(2010)
N Engl J Med
, vol.362
, pp. 1102-1109
-
-
Magen, D.1
Berger, L.2
Coady, M.J.3
-
24
-
-
31544481921
-
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis
-
Bergwitz C, Roslin NM, Tieder M et al. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet 2006; 78: 179-192
-
(2006)
Am J Hum Genet
, vol.78
, pp. 179-192
-
-
Bergwitz, C.1
Roslin, N.M.2
Tieder, M.3
-
25
-
-
0025961930
-
Abnormal renal glucose handling in X-linked hypophosphataemic mice
-
Muhlbauer RC, Fleisch H. Abnormal renal glucose handling in X-linked hypophosphataemic mice. Clin Sci (Lond) 1991; 80: 71-76
-
(1991)
Clin Sci (Lond)
, vol.80
, pp. 71-76
-
-
Muhlbauer, R.C.1
Fleisch, H.2
-
26
-
-
84892566155
-
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome
-
Klootwijk ED, Reichold M, Helip-Wooley A et al. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med 2014; 370: 129-138
-
(2014)
N Engl J Med
, vol.370
, pp. 129-138
-
-
Klootwijk, E.D.1
Reichold, M.2
Helip-Wooley, A.3
-
27
-
-
0026813695
-
Idiopathic fanconi syndrome in a family. Part I. Clinical aspects
-
Tolaymat A, Sakarcan A, Neiberger R. Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects. J Am Soc Nephrol 1992; 2: 1310-1317
-
(1992)
J Am Soc Nephrol
, vol.2
, pp. 1310-1317
-
-
Tolaymat, A.1
Sakarcan, A.2
Neiberger, R.3
-
28
-
-
84864054883
-
Biogenesis disorders: Molecular basis for impaired peroxisomal membrane assembly: In metabolic functions and biogenesis of peroxisomes in health and disease
-
Fujiki Y, Yagita Y, Matsuzaki T. Peroxisome biogenesis disorders: molecular basis for impaired peroxisomal membrane assembly: in metabolic functions and biogenesis of peroxisomes in health and disease. Biochim Biophys Acta 2012; 1822: 1337-1342
-
(1822)
Biochim Biophys Acta 2012
, pp. 1337-1342
-
-
Fujiki, Y.1
Yagita, Y.2
Peroxisome, M.T.3
-
29
-
-
84862333931
-
Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids
-
Houten SM, Denis S, Argmann CA et al. Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids. J Lipid Res 2012; 53: 1296-1303
-
(2012)
J Lipid Res
, vol.53
, pp. 1296-1303
-
-
Houten, S.M.1
Denis, S.2
Argmann, C.A.3
-
30
-
-
0032546929
-
Steatohepatitis, spontaneous peroxisome proliferation and liver tumors in mice lacking peroxisomal fatty acyl-CoA oxidase. Implications for peroxisome proliferator-activated receptor alpha natural ligand metabolism
-
Fan CY, Pan J, Usuda N et al. Steatohepatitis, spontaneous peroxisome proliferation and liver tumors in mice lacking peroxisomal fatty acyl-CoA oxidase. Implications for peroxisome proliferator-activated receptor alpha natural ligand metabolism. J Biol Chem 1998; 273: 15639-15645
-
(1998)
J Biol Chem
, vol.273
, pp. 15639-15645
-
-
Fan, C.Y.1
Pan, J.2
Usuda, N.3
-
31
-
-
10744224980
-
Overexpression of peroxisome proliferatoractivated receptor-alpha (PPARalpha)-regulated genes in liver in the absence of peroxisome proliferation in mice deficient in both L-and Dforms of enoyl-CoA hydratase/dehydrogenase enzymes of peroxisomal beta-oxidation system
-
Jia Y, Qi C, Zhang Z et al. Overexpression of peroxisome proliferatoractivated receptor-alpha (PPARalpha)-regulated genes in liver in the absence of peroxisome proliferation in mice deficient in both L-and Dforms of enoyl-CoA hydratase/dehydrogenase enzymes of peroxisomal beta-oxidation system. J Biol Chem 2003; 278: 47232-47239
-
(2003)
J Biol Chem
, vol.278
, pp. 47232-47239
-
-
Jia, Y.1
Qi, C.2
Zhang, Z.3
-
32
-
-
0031127316
-
Variable peroxisomal and mitochondrial targeting of alanine: Glyoxylate aminotransferase in mammalian evolution and disease
-
Danpure CJ. Variable peroxisomal and mitochondrial targeting of alanine: glyoxylate aminotransferase in mammalian evolution and disease. Bioessays 1997; 19: 317-326
-
(1997)
Bioessays
, vol.19
, pp. 317-326
-
-
Danpure, C.J.1
-
33
-
-
0023890242
-
Metabolic substrate utilization by rabbit proximal tubule. An NADH fluorescence study
-
Balaban RS, Mandel LJ. Metabolic substrate utilization by rabbit proximal tubule. An NADH fluorescence study. Am J Physiol 1988; 254(3 Pt 2): F407-F416
-
(1988)
Am J Physiol
, vol.254
, Issue.3
, pp. F407-F416
-
-
Balaban, R.S.1
Mandel, L.J.2
-
34
-
-
33645373039
-
Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells
-
Laube GF, Shah V, Stewart VC et al. Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells. Pediatr Nephrol 2006; 21: 503-509
-
(2006)
Pediatr Nephrol
, vol.21
, pp. 503-509
-
-
Laube, G.F.1
Shah, V.2
Stewart, V.C.3
-
35
-
-
78449284610
-
Pretransplant free fatty acids (FFA) and allograft survival in renal transplantation
-
Baker AC, de Mattos A, Watkins S et al. Pretransplant free fatty acids (FFA) and allograft survival in renal transplantation. J Surg Res 2010; 164: 182-187
-
(2010)
J Surg Res
, vol.164
, pp. 182-187
-
-
Baker, A.C.1
De Mattos, A.2
Watkins, S.3
-
36
-
-
84923346326
-
Biomarkers of AKI: A review of mechanistic relevance and potential therapeutic implications
-
Alge JL, Arthur JM. Biomarkers of AKI: a review of mechanistic relevance and potential therapeutic implications. Clin J Am Soc Nephrol 2015; 10: 147-155
-
(2015)
Clin J Am Soc Nephrol
, vol.10
, pp. 147-155
-
-
Alge, J.L.1
Arthur, J.M.2
|