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Article

Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.

International journal of molecular sciences - 28 Apr 2020

Machuca-Gayet Irma, Quinaux Thomas, Bertholet-Thomas Aurélia, Gaillard Ségolène, Claramunt-Taberner Débora, Acquaviva-Bourdain Cécile, Bacchetta Justine

Abstract excerpt

Patients with chronic kidney disease (CKD) display significant mineral and bone disorders (CKD-MBD) that induce significant cardiovascular, growth and bone comorbidities. Nephropathic cystinosis is an inherited metabolic disorder caused by the lysosomal accumulation of cystine due to mutations in the CTNS gene encoding cystinosin, and leads to end-stage renal disease within the second decade. The cornerstone of...

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Identifiers

PMID: 32354056
DOI: 10.3390/ijms21093109
PMCID: PMC7246679

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