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10.1073/pnas.1215689109 23 D'AngeloR.EspositoT.CalabroM.RinaldiC.RobledoR.VarrialeB.et al (2013)
Abstract Nephropathic cystinosis is a lysosomal storage disease due to biallelic pathogenic variants in the CTNS gene encoding the cystine transport protein cystinosin
Although the precise pathogenic mechanisms remain to be fully elucidated, studies in non-DKD environments provide important clues
Its no other than L-carnitine
D., Wyatt, H
[DOI] [PubMed] [Google Scholar] 59.Yudkoff M, Daikhin Y, Nissim I, Lazarow A, Nissim I
