Author:
McDowell Geraldine A.,Gahl William A.,Stephenson Leah A.,Schneider Jerry A.,Weissenbach Jean,Polymeropoulos Mihael H.,Town Margaret M.,van't Hoff William,Farrall Martin,Mathew Christopher G.
Publisher
Springer Science and Business Media LLC
Reference14 articles.
1. Gahl, W.A., Bashan, N., Tietze, F., Bernardini, I. & Schulman, J.D. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science 217, 1263–1265 (1982).
2. Gahl, W.A., Schneider, J.A. & Aula, P. Lysosomal transport disorders: cystinosis and sialic acid storage disorders. in The Metabolic and Molecular Basis of Inherited Disease. 7th ed (eds Scriver, C.R., Beaudet, A.L, Sly, W.S. & Valle, D.) 3763–3797 (McGraw-Hill, New York, 1995).
3. Theodoropoulos, D.S., Krasnewich, D., Kaiser-Kupfer, M.I. & Gahl, W.A. Classic nephropathic cystinosis as an adult disease. J. Am. med. Assoc 270, 2200–2204 (1993).
4. Gahl, W.A. >et al. Cysteamine therapy for children with nephropathic cystinosis New Engl. J. Med. 316, 971–977 (1987).
5. Markello, T.C., Bernardini, I.M. & Gahl, W.A. Improved renal function in children with cystinosis treated with cysteamine. New Engl. J. Med. 328, 1157–1162 (1993).
Cited by
93 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献