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Cystinosis Literature

Recent Pubmed articles- click to generated up-to-date list.

Also, see some classics:

1.  da Silva, V.A., Zurbrugg, R.P., Lavanchy, P., Blumberg, A., Suter, H., Wyss, S.R., Luthy, C.M. and Oetliker, O.H. Long-term treatment of infantile nephropathic cystinosis with cysteamine. N.Engl.J.Med.313:1460-1463, 1985.

2.  Gahl, W.A., Reed, G.F., Thoene, J.G., Schulman, J.D., Rizzo, W.B., Jonas, A.J., Denman, D.W., Schlesselman, J.J., Corden, B.J., and Schneider, J.A., Cysteamine therapy for children with nephropathic cystinosis. N.Engl.J.Med. 316:971-977, 1987.

3.  Reznik, V.M., Adamson, M., Adelman, R.D., Murphy, J.L., Gahl, W.A., Clark, K.F., and Schneider, J.A. Treatment of cystinosis with cysteamine from early infancy. Journal of Pediatrics ,119:491-493. 1990

4.   Reznik, V.M., Adamson, M., Adelman, R.D., Murphy, J.L., Gahl, W.A., Clark, K.F. and Schneider, J.A. Treatment of cystinosis with cysteamine from early infancy. J.Pediatr.119:491-493, 1991.

5.  Clark, K.F., Franklin, P.S., Reisch, J.S., Hoffman, H.J., Gahl, W.A., Thoene, J.G., and Schneider, J.A. Effect of cysteamine-HCl and phosphocysteamine dosage on renal function and growth in children with nephropathic cystinosis. Pediatric Research . 31:331A, 1992. (Abstract)

6.  Markello, T.C., Bernardini, I.M., and Gahl, W.A. Improved renal function in children with cystinosis treated with cysteamine. New England Journal of Medicine , 328 (16):1157-1162. 1993

7.  Cysteamine for cystinosis. Med.Lett.Drugs.Ther.36:118, 1994.

8.  Schneider, J.A. Approval of cysteamine for patients with cystinosis. Pediatric Nephrology , 9:254, 1995.

9.   Wenner, W.J., Murphy, J.L. The effects of cysteamine on the upper gastrointestinal tract of children with cystinosis. Pediatric Nephrology11(5): 600-3, Oct. 1997.

10.  Schneider, J.A., Clark, K.F., Greene, A.A., Reisch, J.S., Markello, T.C., Gahl, W.A., Thoene, J.G., Noonan, P.K., Berry, K.A. Recent advances in the treatment of cystinosis. J. Inher. Metab. Dis 18:387-397. 1995.

11.  Schneider, J.A. Cysteamine for treatment of cystinosis. Nephrology Dialysis Transplantation. 9. 97-102, 1996.


1.  Smith, M.L., Clark, K.F., Davis, S.E., Greene, A.A., Marcusson, E.G., Chen, Y-J. and Schneider, J.A. Diagnosis of cystinosis with use of placenta. N.Engl.J.Med.321:397-398, 1989.

2.   McDowell,G.A., Gahl, W.A., Stephenson, L.A., Schneider, J.A., Weissenback, J., Polymerpoulos, M.H., Town, M.H., van't Hoff, W., Farrall, M., Matthew, C.G., Linkage of the gene for cystinosis to markers on the short arm of chromosome17. Nature Genetics .  10, 246-248, 1995.

3.  Town, M., Jean, G., Cherqui, S., Attard, M., Forestier, L., Whitmore, S.A., Callen, D.F., Grivouval, O., Broyer, M., Bates, G.P., van't Hoff, W., Antignac, C. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature Genetics. 18: 319-324. Apr. 1998

4. Thoene, J.G. Cystinosis. J. Inher. Metab. Dis. 18 :380-386. 1995.

Metabolic Defect/Cystine Transport

1.   Thoene, J.G., Oshima, R.G., Crawhall, J.C., Olson, D.L. and Schneider, J.A. Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. J.Clin.Invest.58:180-189, 1976.

2.   Oshima, R.G., Willis, R.C., Furlong, C.E. and Schneider, J.A. Binding assays for amino acids. The utlization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples. J.Biol.Chem.249:6033-6039, 1974.

3.   Smith, M.L., Furlong, C.E., Greene, A.A. and Scheider, J.A. Cystine: Binding protein assay. Methods in Enzymology143:144-148, 1987.

4.  Gahl, W.A., Schneider, J.A., and Aula, P.P. Lysosomal Transport Disorders: Cystinosis and Sialic Acid Storage Disorders. The Metabolic and Molecular Bases of Inherited Disease,   126:3763-3797. 1992


1.   Broyer, M., Tête, M.J., Guest, G., Berthélémé, J.P., Labrousse, F., Poisson, M. Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine. J. Inher. Metab. Dis. 19 :65-75 (1996)

2.   Ballantyne, A.O., Scarvie, K.M., Trauner, D.A. Academic achievement in individuals with infantile nephropathic cystinosis. Am. J. Med. Genet. 74:157-161 (1997)

3.  Colah, S., Trauner, D.A., Tactile recognition in infantile nephropathic cystinosis. Dev. Med. Child. Neuro. 39:409-413 (1997)

4.  Scarvie, K.M., Ballantyne, A.O., Trauner, D.A., Visuomotor performance in children with infantile nephropathic cystinosis. Perceptual and Motor Skills 82:67-75 (1996)

5.  Markusic, D.M., Ballantyne, A.O., Light, M., Trauner, D.A. Behavioral differences in children with nephropathic cystinosis. Annals of Neurology  (40) 2. Aug. 1996.

6.  Trauner, D.A., Chase, C., Scheller, J., Katz, B., Schneider, J.A., Neurologic and cognitive deficits in children with cystinosis. J. of Peds. 112, 6:912-914. June 1988.

7.  Williams, B.L.H., Schneider, J.A., Trauner, D.A., Global intellectual deficits in cystinosis. Am. J. Med. Genet. 49:83-87 (1994).

8.  Nichols, S.L., Press, G.A., Schneider, J.A., Trauner, D.A., Cortical atrophy and cognitive performance in infantile nephropathic cystinosis. Ped. Neur. (6)6:379-381 (1990).

9.  Sarfaty, T.D., Coffey, S.A., Weber-Fox, C.M., Hodge, B.L., Trauner, D.A., Neville, H.J., A neurophysiological analysis of visuospatial attention in children with cystinosis, carrier siblings, and controls. Neuro. 42 (Suppl 3) 278 April 1992.


1.  Schneider, J.A., Katz, B., Melles, R.B., Update on nephropathic cystinosis. Pediatric Nephrology 4:645-653, 1990.

2.  Sonies, B.C., Ekman, E.F., Anderson, H.C., Adamson, M.D., Kaler, S.G., Markello, T.C., Gahl, W.A. Swallowing dysfunction in nephropathic cystinosis. N.Engl.J.Med. , Vol. 323, No.9: 565-570. (Aug., 30 1990)

3.  Clark, K.F., Slymen, D.J., Schneider, J.A., Thoene, J.A, Stetz, S., Gahl, W.A., Bernardini, I., Lew, P.J., Sebring, N.G. A comparative study of indomethacin for treatment of the fanconi syndrome in cystinosis. Journal of Rare Diseases II(6): 5-12, Nov/Dec 1996.

4.   Gahl, W.A., Nephropathic cystinosis. Pediatrics in Review  5.  Theodoropoulos, D.S., Krasnewich, D., Kaiser-Kupfer, M.I., Gahl, W.A. Classic nephropathic cystinosis as an adult disease. JAMA 270(18):2200-2204, 1993.

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