New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients

BACKGROUND: Lesch-Nyhan disease is a rare X-linked neurodevelopemental metabolic disorder caused by a wide variety of mutations in the HPRT1 gene leading to a deficiency of the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt). The residual HGprt activity correlates with...

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Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Ceballos-Picot, Irène, Le Dantec, Aurélia, Brassier, Anaïs, Jaïs, Jean-Philippe, Ledroit, Morgan, Cahu, Julie, Ea, Hang-Korng, Daignan-Fornier, Bertrand, Pinson, Benoît
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4320826/
https://ncbi.nlm.nih.gov/pubmed/25612837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0219-0
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