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Analysis ofCTNSgene transcripts in nephropathic cystinosis

โœ Scribed by Anna Taranta; Martijn J. Wilmer; Lambert P. van den Heuvel; Paola Bencivenga; Francesco Bellomo; Elena N. Levtchenko; Francesco Emma

Publisher
Springer
Year
2010
Tongue
English
Weight
131 KB
Volume
25
Category
Article
ISSN
0931-041X

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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