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Course of nephropathic cystinosis after age 10 yearsGAHL, W. A; SCHNEIDER, J. A; THOENE, J. G et al.The Journal of pediatrics. 1986, Vol 109, Num 4, pp 605-608, issn 0022-3476Article

Cystinosis presenting with features suggesting Bartter syndromeWHYTE, M. P; SUDAH SHAHEB; SCHNAPER, H. W et al.Clinical pediatrics. 1985, Vol 24, Num 8, pp 447-451, issn 0009-9228Article

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite populationRUPAR, C. Anthony; MATSELL, Douglas; SURRY, Susan et al.Journal of medical genetics. 2001, Vol 38, Num 9, pp 615-616, issn 0022-2593Article

Cystine depletion by WR-1065 in cystinotic cells: mechanism of actionDEBROHUN BUTLER, J; GAHL, W. A; TIETZE, F et al.Biochemical pharmacology. 1985, Vol 34, Num 12, pp 2179-2185, issn 0006-2952Article

Altered oxidative metabolism, motility, and adherence in phagocytic cells from cystinotic childrenPINTOS MORELL, G; NIAUDET, P; JEAN, G et al.Pediatric research. 1985, Vol 19, Num 12, pp 1318-1321, issn 0031-3998Article

Medical progress: CystinosisGAHL, William A; THOENE, Jess G; SCHNEIDER, Jerry A et al.The New England journal of medicine. 2002, Vol 347, Num 2, pp 111-121, issn 0028-4793Article

Données actuelles sur la localisation du gène de la cystinose = Current data on mapping of the cystinosis geneJEAN, G; ANTIGNAC, C; FUCHSHUBER, A et al.Annales de pédiatrie (Paris). 1997, Vol 44, Num 10, pp 667-674, issn 0066-2097Article

Cystine intra-leucocytaire dans les cystinoses traitées par la cystéamineGED, C; JEAN, G; TETE, M.-J et al.Annales de biologie clinique (Paris). 1991, Vol 49, Num 9, pp 482-486, issn 0003-3898Article

Swallowing dysfunction in nephropathic cystinosisSONIES, B. C; EKMAN, E. F; ANDERSSON, H. C et al.The New England journal of medicine. 1990, Vol 323, Num 9, pp 565-570, issn 0028-4793Article

Cystinosis: progress in a prototypic diseaseGAHL, W. A; THOENE, J. G; SCHNEIDER, J. A et al.Annals of internal medicine. 1988, Vol 109, Num 7, pp 557-569, issn 0003-4819Article

An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytesSMOLIN, L. A; CLARK, K. F; SCHNEIDER, J. A et al.American journal of human genetics. 1987, Vol 41, Num 2, pp 266-275, issn 0002-9297Article

Long-term treatment of infantile nephropathic cystinosis with cysteamineDA SILVA, V. A; ZURBRUGG, R. P; LAVANCHY, P et al.The New England journal of medicine. 1985, Vol 313, Num 23, pp 1460-1463, issn 0028-4793Article

Pathological case of the month : cystinosisFRIEDMAN, A.Archives of pediatrics & adolescent medicine. 1995, Vol 149, Num 11, pp 1269-1270, issn 1072-4710Article

Complications tardives de la cystinose : à propos de 33 cas ayant dépassé 18 ans = Delayed complications of cystinosis, a review of 33 patients older than 18 yearsBROYER, M; TETE, M. J.Annales de pédiatrie (Paris). 1995, Vol 42, Num 10, pp 635-641, issn 0066-2097Article

Effects of oral phosphocysteamine and rectal cysteamine in cystinosisVAN'T HOFF, W. G; BAKER, T; DALTON, R. N et al.Archives of disease in childhood. 1991, Vol 66, Num 12, pp 1434-1437, issn 0003-9888Article

Cystinosis phenotypes have identical defective cystine clearance patternSTEINHERZ, R; MAKOV, N; KOHN, G et al.Biomedicine & pharmacotherapy. 1987, Vol 41, Num 9-10, pp 473-477, issn 0753-3322Article

Glutathione metabolism in normal and cystinotic fibroblastsBUTLER, J. D; KEY, J. D; HUGHES, B. F et al.Experimental cell research. 1987, Vol 172, Num 1, pp 158-167, issn 0014-4827Article

La cystinose en bref = CystinosisLa Revue Prescrire. 1998, Vol 18, Num 190, issn 0247-7750, p. 822Article

Cystinose infantile : une nouvelle observation tunisienne = Infantile cystinosis: a new tunisian casePOUSSE, H; BESBES, A; SLIMANE, M. N et al.Annales de pédiatrie (Paris). 1992, Vol 39, Num 6, pp 365-368, issn 0066-2097Article

Dark cells of cystinosis: occurrence in renal allograftsSPEAR, G. S; GUBLER, M.-C; HABIB, R et al.Human pathology. 1989, Vol 20, Num 5, pp 472-476, issn 0046-8177Article

A high performance liquid chromatography method for the analysis of ³⁵ S-cystine: application to the diagnosis of cystinosisHALL, N. A; YOUNG, E. P.Clinica chimica acta. 1989, Vol 184, Num 1, pp 1-5, issn 0009-8981Article

Lysosomal cystine transport in cystinosis variants and their parentsGAHL, W. A; TIETZE, F.Pediatric research. 1987, Vol 21, Num 2, pp 193-196, issn 0031-3998Article

Metabolism of pantethine in cystinosisWITTWER, C. T; GAHL, W. A; BUTLER, J. DEB et al.The Journal of clinical investigation. 1985, Vol 76, Num 4, pp 1665-1672, issn 0021-9738Article

Treatment of cystinosis with cysteamine from early infancyREZNIK, V. M; ADAMSON, M; ADELMAN, R. D et al.The Journal of pediatrics. 1991, Vol 119, Num 3, pp 491-493, issn 0022-3476Article