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Literature DB >> 3185663

Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis.

W A Gahl¹, M C Dalakas, L Charnas, K T Chen, G H Pezeshkpour, T Kuwabara, S L Davis, R W Chesney, J Fink, H T Hutchison.

Abstract

Entities: Chemical Disease Species

Mesh：

Substances：
Cystine

Year: 1988 PMID： 3185663 DOI： 10.1056/NEJM198812013192206

Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245

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Cited

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26 in total

1. Effects of oral phosphocysteamine and rectal cysteamine in cystinosis.

Authors: W G van't Hoff; T Baker; R N Dalton; L C Duke; S P Smith; C Chantler; G B Haycock
Journal: Arch Dis Child Date: 1991-12 Impact factor: 3.791

2. Predicted reciprocal serum creatinine at age 10 years as a measure of renal function in children with nephropathic cystinosis treated with oral cysteamine.

Authors: W A Gahl; J A Schneider; J D Schulman; J G Thoene; G F Reed
Journal: Pediatr Nephrol Date: 1990-03 Impact factor: 3.714

3. Successful management of a neglected case of nephropathic cystinosis.

Authors: Mohamed A El-Naggari; Ibtisam Elnour; Hussein Al-Kindy; Aamir Al-Shahrabally; Anas A Abdelmogheth
Journal: Sultan Qaboos Univ Med J Date: 2014-04-07

Review 4. Update on nephropathic cystinosis.

Authors: J A Schneider; B Katz; R B Melles
Journal: Pediatr Nephrol Date: 1990-11 Impact factor: 3.714

Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis.

1. Effects of oral phosphocysteamine and rectal cysteamine in cystinosis.

2. Predicted reciprocal serum creatinine at age 10 years as a measure of renal function in children with nephropathic cystinosis treated with oral cysteamine.

3. Successful management of a neglected case of nephropathic cystinosis.

Review 4. Update on nephropathic cystinosis.

5. Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.

Review 6. New aspects of the pathogenesis of cystinosis.

7. Renal transplantation in 22 children with nephropathic cystinosis.

8. Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine.

Review 9. Nephropathic cystinosis: late complications of a multisystemic disease.

10. Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage.