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Distal vacuolar myopathy in nephropathic cystinosis

โœ Scribed by Dr. Lawrence R. Charnas; Carlos A. Luciano; Marinos Dalakas; Roger W. Gilliatt; Isa Bernardini; Kamal Ishak; Valerie A. Cwik; Douglas Fraker; Thomas A. Brushart; William A. Gahl

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
1012 KB
Volume
35
Category
Article
ISSN
0364-5134

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The present study examined academic skills in children and young adults with infantile nephropathic cystinosis. Cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in various tissues and organs, including the kidney, cornea, thyroid, and brain. Individuals with cys