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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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| Veröffentlicht in: | Orphanet J Rare Dis |
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| Hauptverfasser: | , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2015
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| Schlagworte: | |
| Online Zugang: | 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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