Cystinosis

Author:

Thoene J. G.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Abderhalden E (1903) Familiare cystindiathese.Z Physiol Chem 38: 557?561.

2. Andersen HC, Markello T, Schneider JA, Gahl WA (1992) Effect of growth hormone treatment on serum creatinine concentration in patients with cystinosis and chronic renal disease.J Pediatr 120: 716?720.

3. Bernardini I, Rizzo W, Dalakas M, Bernard J, Gahl W (1985) Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.J Clin Invest 75: 1124.

4. Gahl WA, Bashan N, Tietze F, Schulman J (1984) Lysozomal cystine counter transport in heterozygotes for cystinosis.Am J Hum Genet 36: 277?282.

5. Gahl WA, Renlund M, Thoene J (1989) Lysosomal transport disorders: cystinosis and sialic acid storage disorders. In Scriver C, Beaudet A, Sly W, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 2619?2647.

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