메뉴 건너뛰기




Volumn , Issue , 2012, Pages 617-624

Cystinosis

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84930447643     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-642-15720-2_36     Document Type: Chapter
Times cited : (3)

References (66)
  • 2
    • 65349098790 scopus 로고    scopus 로고
    • In vivo confocal microscopy and anterior segment optical coherence tomography analysis of the cornea in nephropathic cystinosis
    • Labbe A, Niaudet P, Loirat C et al. (2009) In vivo confocal microscopy and anterior segment optical coherence tomography analysis of the cornea in nephropathic cystinosis. Ophthalmology 116:870-876
    • (2009) Ophthalmology , vol.116 , pp. 870-876
    • Labbe, A.1    Niaudet, P.2    Loirat, C.3
  • 3
    • 0029076211 scopus 로고
    • Earlyonset chronic renal failure as a presentation of infantile nephropathic cystinosis
    • Hoff v WG, Ledermann SE, Waldron M, Trompeter RS (1995) Earlyonset chronic renal failure as a presentation of infantile nephropathic cystinosis. Pediatr Nephrol 9:483-484
    • (1995) Pediatr Nephrol , vol.9 , pp. 483-484
    • Hoff V, W.G.1    Ledermann, S.E.2    Waldron, M.3    Trompeter, R.S.4
  • 5
    • 0023584091 scopus 로고
    • Complications of nephropathic cystinosis after renal failure
    • Gahl WA, Kaiser-Kupfer MI (1987) Complications of nephropathic cystinosis after renal failure. Pediatr Nephrol 1:260-268
    • (1987) Pediatr Nephrol , vol.1 , pp. 260-268
    • Gahl, W.A.1    Kaiser-Kupfer, M.I.2
  • 6
    • 0036796183 scopus 로고    scopus 로고
    • Follow-up and treatment of adults with cystinosis in the Netherlands
    • Geelen JM, Monnens LA, Levtchenko EN (2002) Follow-up and treatment of adults with cystinosis in the Netherlands. Nephrol Dial Transplant 17:1766-1770
    • (2002) Nephrol Dial Transplant , vol.17 , pp. 1766-1770
    • Geelen, J.M.1    Monnens, L.A.2    Levtchenko, E.N.3
  • 8
    • 0038246329 scopus 로고    scopus 로고
    • Evolution of ocular manifestations in nephropathic cystinosis: A long-term study of a population treated with cysteamine
    • Dureau P, Broyer M, Dufier JL (2003) Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteamine. J Pediatr Ophthalmol Strabismus 40:142-146
    • (2003) J Pediatr Ophthalmol Strabismus , vol.40 , pp. 142-146
    • Dureau, P.1    Broyer, M.2    Dufier, J.L.3
  • 9
    • 0033808653 scopus 로고    scopus 로고
    • Corneal crystals in nephropathic cystinosis: Natural history and treatment with cysteamine eyedrops
    • Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI (2000) Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol Genet Metab 71:100-120
    • (2000) Mol Genet Metab , vol.71 , pp. 100-120
    • Gahl, W.A.1    Kuehl, E.M.2    Iwata, F.3    Lindblad, A.4    Kaiser-Kupfer, M.I.5
  • 10
    • 33646942145 scopus 로고    scopus 로고
    • Nephropathic cystinosis: Posterior segment manifestations and effects of cysteamine therapy
    • Tsilou ET, Rubin BI, Reed G et al. (2006) Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy. Ophthalmology 113:1002-1009
    • (2006) Ophthalmology , vol.113 , pp. 1002-1009
    • Tsilou, E.T.1    Rubin, B.I.2    Reed, G.3
  • 12
    • 0028846636 scopus 로고
    • Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis
    • Kimonis VE, Troendle J, Rose SR et al. (1995) Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. J Clin Endocrinol Metab 80:3257-3261
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 3257-3261
    • Kimonis, V.E.1    Troendle, J.2    Rose, S.R.3
  • 14
    • 77949915681 scopus 로고    scopus 로고
    • Fertility status in male cystinosis patients treated with cysteamine
    • Besouw MT, Kremer JA, Janssen MC, Levtchenko EN (2010) Fertility status in male cystinosis patients treated with cysteamine. Fertil Steril 93:1880-1883.
    • (2010) Fertil Steril , vol.93 , pp. 1880-1883
    • Besouw, M.T.1    Kremer, J.A.2    Janssen, M.C.3    Levtchenko, E.N.4
  • 15
    • 0032784098 scopus 로고    scopus 로고
    • Diabetes mellitus in patients with infantile cystinosis after renal transplantation
    • Robert JJ, Tete MJ, Guest G et al. (1999) Diabetes mellitus in patients with infantile cystinosis after renal transplantation. Pediatr Nephrol 13:524-529
    • (1999) Pediatr Nephrol , vol.13 , pp. 524-529
    • Robert, J.J.1    Tete, M.J.2    Guest, G.3
  • 16
    • 0023573885 scopus 로고
    • Pancreatic endocrine insufficiency in posttransplant cystinosis
    • Fivush B, Green OC, Porter CC et al. (1987) Pancreatic endocrine insufficiency in posttransplant cystinosis. Am J Dis Child (1960) 141:1087-1089
    • (1987) Am J Dis Child (1960) , vol.141 , pp. 1087-1089
    • Fivush, B.1    Green, O.C.2    Porter, C.C.3
  • 17
    • 48549090987 scopus 로고    scopus 로고
    • Cholestatic liver disease in long-term infantile nephropathic cystinosis
    • Cornelis T, Claes K, Gillard P et al. (2008) Cholestatic liver disease in long-term infantile nephropathic cystinosis. J Gastroenterol Hepatol 23:e428-431
    • (2008) J Gastroenterol Hepatol , vol.23 , pp. e428-e431
    • Cornelis, T.1    Claes, K.2    Gillard, P.3
  • 18
    • 0023768489 scopus 로고
    • Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis
    • Gahl WA, Dalakas MC, Charnas L et al. (1988) Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. NEngl J Med 319:1461-1464
    • (1988) Nengl J Med , vol.319 , pp. 1461-1464
    • Gahl, W.A.1    Dalakas, M.C.2    Charnas, L.3
  • 20
    • 0025044917 scopus 로고
    • Swallowing dysfunction in nephropathic cystinosis
    • Sonies BC, Ekman EF, Andersson HC et al. (1990) Swallowing dysfunction in nephropathic cystinosis. N Engl J Med 323:565-570
    • (1990) N Engl J Med , vol.323 , pp. 565-570
    • Sonies, B.C.1    Ekman, E.F.2    Ersson, H.C.3
  • 21
    • 0034972946 scopus 로고    scopus 로고
    • Oral motor dysfunction and feeding difficulties in nephropathic cystinosis
    • Trauner DA, Fahmy RF, Mishler DA (2001) Oral motor dysfunction and feeding difficulties in nephropathic cystinosis. Pediatr Neurol 24:365-368
    • (2001) Pediatr Neurol , vol.24 , pp. 365-368
    • Trauner, D.A.1    Fahmy, R.F.2    Mishler, D.A.3
  • 22
    • 18744364173 scopus 로고    scopus 로고
    • Swallowing dysfunction in 101 patients with nephropathic cystinosis: Benefit of long-term cysteamine therapy
    • Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA (2005) Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. Medicine 84:137-146
    • (2005) Medicine , vol.84 , pp. 137-146
    • Sonies, B.C.1    Almajid, P.2    Kleta, R.3    Bernardini, I.4    Gahl, W.A.5
  • 23
    • 0035113201 scopus 로고    scopus 로고
    • Pulmonary dysfunction in adults with nephropathic cystinosis
    • Anikster Y, Lacbawan F, Brantly M et al. (2001) Pulmonary dysfunction in adults with nephropathic cystinosis. Chest 119:394-401
    • (2001) Chest , vol.119 , pp. 394-401
    • Anikster, Y.1    Lacbawan, F.2    Brantly, M.3
  • 24
    • 33749643495 scopus 로고    scopus 로고
    • Successful treatment of respiratory dysfunction in cystinosis by nocturnal noninvasive positive pressure ventilation
    • Edens MA, Son v WJ, de Greef MH et al. (2006) Successful treatment of respiratory dysfunction in cystinosis by nocturnal noninvasive positive pressure ventilation. Clin Nephrol 66:306-309
    • (2006) Clin Nephrol , vol.66 , pp. 306-309
    • Edens, M.A.1    Son V, W.J.2    De Greef, M.H.3
  • 25
    • 3343001791 scopus 로고    scopus 로고
    • Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up
    • Dixit MP, Greifer I (2002) Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up. BMC Nephrol 3:8
    • (2002) BMC Nephrol , vol.3 , pp. 8
    • Dixit, M.P.1    Greifer, I.2
  • 26
    • 7444266845 scopus 로고    scopus 로고
    • Idiopathic intracranial hypertension in cystinosis
    • Dogulu CF, Tsilou E, Rubin B et al. (2004) Idiopathic intracranial hypertension in cystinosis. The Journal of pediatrics 145:673-678
    • (2004) The Journal of Pediatrics , vol.145 , pp. 673-678
    • Dogulu, C.F.1    Tsilou, E.2    Rubin, B.3
  • 27
    • 0033696397 scopus 로고    scopus 로고
    • Neurobehavioral consequences of a genetic metabolic disorder: Visual processing deficits in infantile nephropathic cystinosis. Neuropsychiatry
    • Ballantyne AO, Trauner DA (2000) Neurobehavioral consequences of a genetic metabolic disorder: visual processing deficits in infantile nephropathic cystinosis. Neuropsychiatry, Neuropsychol Behav Neurol 13:254-263
    • (2000) Neuropsychol Behav Neurol , vol.13 , pp. 254-263
    • Ballantyne, A.O.1    Trauner, D.A.2
  • 28
    • 0030796581 scopus 로고    scopus 로고
    • Tactile recognition in infantile nephropathic cystinosis
    • Colah S, Trauner DA (1997) Tactile recognition in infantile nephropathic cystinosis. Dev Med Child Neurol 39:409-413
    • (1997) Dev Med Child Neurol , vol.39 , pp. 409-413
    • Colah, S.1    Trauner, D.A.2
  • 30
    • 34447513911 scopus 로고    scopus 로고
    • Specific cognitive deficits in young children with cystinosis: Evidence for an early effect of the cystinosin gene on neural function
    • Trauner DA, Spilkin AM, Williams J, Babchuck L (2007) Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function. J Pediatr 151:192-196
    • (2007) J Pediatr , vol.151 , pp. 192-196
    • Trauner, D.A.1    Spilkin, A.M.2    Williams, J.3    Babchuck, L.4
  • 31
    • 0029865229 scopus 로고    scopus 로고
    • Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine
    • Broyer M, Tete MJ, Guest G et al. (1996) Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine. J Inherit Metab Dis 19:65-75
    • (1996) J Inherit Metab Dis , vol.19 , pp. 65-75
    • Broyer, M.1    Tete, M.J.2    Guest, G.3
  • 32
    • 0025679285 scopus 로고
    • Cortical atrophy and cognitive performance in infantile nephropathic cystinosis
    • Nichols SL, Press GA, Schneider JA, Trauner DA (1990) Cortical atrophy and cognitive performance in infantile nephropathic cystinosis. Pediatr Neurol 6:379-381
    • (1990) Pediatr Neurol , vol.6 , pp. 379-381
    • Nichols, S.L.1    Press, G.A.2    Schneider, J.A.3    Trauner, D.A.4
  • 33
    • 0019940282 scopus 로고
    • Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis
    • Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD (1982) Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science 217:1263-1265
    • (1982) Science , vol.217 , pp. 1263-1265
    • Gahl, W.A.1    Bashan, N.2    Tietze, F.3    Bernardini, I.4    Schulman, J.D.5
  • 34
    • 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 (2001) Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J 20:5940-5949
    • (2001) EMBO J , vol.20 , pp. 5940-5949
    • Kalatzis, V.1    Cherqui, S.2    Antignac, C.3    Gasnier, B.4
  • 35
    • 3242722276 scopus 로고    scopus 로고
    • Molecular pathogenesis of cystinosis: Effect of CTNS mutations on the transport activity and subcellular localization of cystinosin
    • Kalatzis V, Nevo N, Cherqui S, Gasnier B, Antignac C (2004) Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Hum Mol Genet 13:1361-1371
    • (2004) Hum Mol Genet , vol.13 , pp. 1361-1371
    • Kalatzis, V.1    Nevo, N.2    Cherqui, S.3    Gasnier, B.4    Antignac, C.5
  • 36
    • 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 (1987) Effect of cystine dimethylester on renal solute handling and isolated renal tubule transport in the rat: a new model of the Fanconi syndrome. Metab Clin Exp 36:1185-1191
    • (1987) Metab Clin Exp , vol.36 , pp. 1185-1191
    • Foreman, J.W.1    Bowring, M.A.2    Lee, J.3    States, B.4    Segal, S.5
  • 37
    • 0036066176 scopus 로고    scopus 로고
    • Inhibition of Na(+)- dependent transporters in cystine-loaded human renal cells: Electrophysiological studies on the Fanconi syndrome of cystinosis
    • Cetinkaya I, Schlatter E, Hirsch JR et al. (2002) Inhibition of Na(+)- dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis. J Am Soc Nephrol 13:2085-2093
    • (2002) J am Soc Nephrol , vol.13 , pp. 2085-2093
    • Cetinkaya, I.1    Schlatter, E.2    Hirsch, J.R.3
  • 38
    • 2442473666 scopus 로고    scopus 로고
    • Inhibition of pyruvate kinase activity by cystine in brain cortex of rats
    • Feksa LR, Cornelio A, Dutra-Filho CS et al. (2004) Inhibition of pyruvate kinase activity by cystine in brain cortex of rats. Brain Res 1012:93-100
    • (2004) Brain Res , vol.1012 , pp. 93-100
    • Feksa, L.R.1    Cornelio, A.2    Dutra-Filho, C.S.3
  • 39
    • 14344264450 scopus 로고    scopus 로고
    • Cysteamine prevents and reverses the inhibition of creatine kinase activity caused by cystine in rat brain cortex
    • Fleck RM, Rodrigues V Jr, Giacomazzi J et al. (2005) Cysteamine prevents and reverses the inhibition of creatine kinase activity caused by cystine in rat brain cortex. Neurochem Int 46:391-397
    • (2005) Neurochem Int , vol.46 , pp. 391-397
    • Fleck, R.M.1    Rodrigues, V.2    Giacomazzi, J.3
  • 41
    • 74449090487 scopus 로고    scopus 로고
    • Cysteamine prevents inhibition of adenylate kinase caused by cystine in rat brain cortex
    • Figueiredo VC, Feksa LR, Wannmacher CM (2009) Cysteamine prevents inhibition of adenylate kinase caused by cystine in rat brain cortex. Metab Brain Dis 24:373-381
    • (2009) Metab Brain Dis , vol.24 , pp. 373-381
    • Figueiredo, V.C.1    Feksa, L.R.2    Wannmacher, C.M.3
  • 42
    • 4744368742 scopus 로고    scopus 로고
    • Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines
    • Chol M, Nevo N, Cherqui S, Antignac C, Rustin P (2004) Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines. Biochem Biophys Res Commun 324:231-235
    • (2004) Biochem Biophys Res Commun , vol.324 , pp. 231-235
    • Chol, M.1    Nevo, N.2    Cherqui, S.3    Antignac, C.4    Rustin, P.5
  • 43
    • 36148938793 scopus 로고    scopus 로고
    • A review of the role of enhanced apoptosis in the pathophysiology of cystinosis
    • Thoene JG (2007) A review of the role of enhanced apoptosis in the pathophysiology of cystinosis. Mol Genet Metab 92:292-298
    • (2007) Mol Genet Metab , vol.92 , pp. 292-298
    • Thoene, J.G.1
  • 44
    • 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. (2002) Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol Cell Biol 22:7622-7632
    • (2002) Mol Cell Biol , vol.22 , pp. 7622-7632
    • Cherqui, S.1    Sevin, C.2    Hamard, G.3
  • 45
    • 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. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18:319-324
    • (1998) Nat Genet , vol.18 , pp. 319-324
    • Town, M.1    Jean, G.2    Cherqui, S.3
  • 46
    • 0038498821 scopus 로고    scopus 로고
    • New aspects of the pathogenesis of cystinosis
    • Kalatzis V, Antignac C (2003) New aspects of the pathogenesis of cystinosis. Pediatr Nephrol 18:207-215
    • (2003) Pediatr Nephrol , vol.18 , pp. 207-215
    • Kalatzis, V.1    Antignac, C.2
  • 47
    • 0014404247 scopus 로고
    • Biochemical comparisons of the adult and childhood forms of cystinosis
    • Schneider JA, Wong V, Bradley K, Seegmiller JE (1968) Biochemical comparisons of the adult and childhood forms of cystinosis. N Engl J Med 279:1253-1257
    • (1968) N Engl J Med , vol.279 , pp. 1253-1257
    • Schneider, J.A.1    Wong, V.2    Bradley, K.3    Seegmiller, J.E.4
  • 48
    • 34249706461 scopus 로고    scopus 로고
    • Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry
    • Chabli A, Aupetit J, Raehm M, Ricquier D, Chadefaux-Vekemans B (2007) Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry. Clin Biochem 40:692-698
    • (2007) Clin Biochem , vol.40 , pp. 692-698
    • Chabli, A.1    Aupetit, J.2    Raehm, M.3    Ricquier, D.4    Chadefaux-Vekemans, B.5
  • 49
    • 28544443172 scopus 로고    scopus 로고
    • Prenatal diagnosis of cystinosis by quantitative measurement of cystine in chorionic villi and cultured cells
    • Jackson M, Young E (2005) Prenatal diagnosis of cystinosis by quantitative measurement of cystine in chorionic villi and cultured cells. Prenat Diagn 25:1045-1047
    • (2005) Prenat Diagn , vol.25 , pp. 1045-1047
    • Jackson, M.1    Young, E.2
  • 50
    • 8544233398 scopus 로고    scopus 로고
    • FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis
    • Bendavid C, Kleta R, Long R et al. (2004) FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. Hum Genet 115:510-514
    • (2004) Hum Genet , vol.115 , pp. 510-514
    • Bendavid, C.1    Kleta, R.2    Long, R.3
  • 51
    • 0027168893 scopus 로고
    • Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis
    • Gahl WA, Bernardini IM, Dalakas MC et al. (1993) Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis. Pediatr Res 34:115-119.
    • (1993) Pediatr Res , vol.34 , pp. 115-119
    • Gahl, W.A.1    Bernardini, I.M.2    Dalakas, M.C.3
  • 53
    • 0024604288 scopus 로고
    • Kidney transplantation in children – data from the EDTA registry. The EDTA Registry Committee
    • Broyer M (1989) Kidney transplantation in children – data from the EDTA registry. The EDTA Registry Committee. Transplant Proc 21:1985-1988
    • (1989) Transplant Proc , vol.21 , pp. 1985-1988
    • Broyer, M.1
  • 54
    • 0034971459 scopus 로고    scopus 로고
    • Long-term treatment with growth hormone in short children with nephropathic cystinosis
    • Wuhl E, Haffner D, Offner G et al. (2001) Long-term treatment with growth hormone in short children with nephropathic cystinosis. J Pediatr 138:880-887
    • (2001) J Pediatr , vol.138 , pp. 880-887
    • Wuhl, E.1    Haffner, D.2    Offner, G.3
  • 55
    • 0023150727 scopus 로고
    • Cysteamine therapy for children with nephropathic cystinosis
    • Gahl WA, Reed GF, Thoene JG et al. (1987) Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med 316:971-977
    • (1987) N Engl J Med , vol.316 , pp. 971-977
    • Gahl, W.A.1    Reed, G.F.2    Thoene, J.G.3
  • 56
    • 0242575995 scopus 로고    scopus 로고
    • Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients
    • Belldina EB, Huang MY, Schneider JA, Brundage RC, Tracy TS (2003) Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients. Br J Clin Pharmacol 56:520-525
    • (2003) Br J Clin Pharmacol , vol.56 , pp. 520-525
    • Belldina, E.B.1    Huang, M.Y.2    Schneider, J.A.3    Brundage, R.C.4    Tracy, T.S.5
  • 57
    • 72049095333 scopus 로고    scopus 로고
    • Twice-daily cysteamine bitartrate therapy for children with cystinosis
    • Dohil R, Fidler M, Gangoiti JA et al. (2010) Twice-daily cysteamine bitartrate therapy for children with cystinosis. J Pediatr 156:71-75 e71-73
    • (2010) J Pediatr , vol.156 , pp. 71-75
    • Dohil, R.1    Fidler, M.2    Gangoiti, J.A.3
  • 58
    • 0022383325 scopus 로고
    • Long-term treatment of infantile nephropathic cystinosis with cysteamine
    • Da Silva VA, Zurbrugg RP, Lavanchy P et al. (1985) Long-term treatment of infantile nephropathic cystinosis with cysteamine. N Engl J Med 313:1460-1463
    • (1985) N Engl J Med , vol.313 , pp. 1460-1463
    • Da Silva, V.A.1    Zurbrugg, R.P.2    Lavanchy, P.3
  • 59
    • 5144225376 scopus 로고    scopus 로고
    • Long-term follow-up of well-treated nephropathic cystinosis patients
    • Kleta R, Bernardini I, Ueda M et al. (2004) Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr 145:555-560
    • (2004) J Pediatr , vol.145 , pp. 555-560
    • Kleta, R.1    Bernardini, I.2    Ueda, M.3
  • 60
    • 0042834216 scopus 로고    scopus 로고
    • The evaluation and treatment of gastrointestinal disease in c2hildren with cystinosis receiving cysteamine
    • Dohil R, Newbury RO, Sellers ZM, Deutsch R, Schneider JA (2003) The evaluation and treatment of gastrointestinal disease in c2hildren with cystinosis receiving cysteamine. J Pediatr 143:224-230
    • (2003) J Pediatr , vol.143 , pp. 224-230
    • Dohil, R.1    Newbury, R.O.2    Sellers, Z.M.3    Deutsch, R.4    Schneider, J.A.5
  • 61
    • 5144234456 scopus 로고    scopus 로고
    • Treatment of cystinosis: Simple in principle, difficult in practice
    • Schneider JA (2004) Treatment of cystinosis: simple in principle, difficult in practice. J Pediatr 145:436-438
    • (2004) J Pediatr , vol.145 , pp. 436-438
    • Schneider, J.A.1
  • 62
    • 70350509583 scopus 로고    scopus 로고
    • Successful treatment of the murine model of cystinosis using bone marrow cell transplantation
    • Syres K, Harrison F, Tadlock M et al. (2009) Successful treatment of the murine model of cystinosis using bone marrow cell transplantation. Blood 114:2542-2552
    • (2009) Blood , vol.114 , pp. 2542-2552
    • Syres, K.1    Harrison, F.2    Tadlock, M.3
  • 63
    • 0027985644 scopus 로고
    • Glomerular lesions in juvenile cystinosis: Report of 2 cases
    • Hory B, Billerey C, Royer J, Saint Hillier Y (1994) Glomerular lesions in juvenile cystinosis: report of 2 cases. Clin Nephrol 42:327-330
    • (1994) Clin Nephrol , vol.42 , pp. 327-330
    • Hory, B.1    Billerey, C.2    Royer, J.3    Saint Hillier, Y.4
  • 64
    • 38749135519 scopus 로고    scopus 로고
    • Late-onset nephropathic cystinosis: Clinical presentation, outcome, and genotyping
    • Servais A, Moriniere V, Grunfeld JP et al. (2008) Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. Clin J Am Soc Nephrol 3:27-35
    • (2008) Clin J am Soc Nephrol , vol.3 , pp. 27-35
    • Servais, A.1    Moriniere, V.2    Grunfeld, J.P.3
  • 66
    • 18544404666 scopus 로고    scopus 로고
    • Ocular nonnephropathic cystinosis: Clinical, biochemical, and molecular correlations
    • Anikster Y, Lucero C, Guo J et al. (2000) Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatr Res 47:17-23
    • (2000) Pediatr Res , vol.47 , pp. 17-23
    • Anikster, Y.1    Lucero, C.2    Guo, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.