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A Cross-Sectional Study of Regional Brain Volume Abnormalities in Lesch-Nyhan Disease and its Variants

BACKGROUND: Lesch-Nyhan disease (LND) is a rare, X-linked, neurodevelopmental metabolic disorder that results from a near-complete lack of hypoxanthine phosphoribosyl-transferase enzyme activity. LND is characterized by hyperuricemia, motor neurological abnormalities, recurrent self-injury, and cogn...

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Detalhes bibliográficos
Main Authors: Schretlen, David J., Varvaris, Mark, Ho, Tiffany E., Vannorsdall, Tracy D., Gordon, Barry, Harris, James C., Jinnah, H. A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3932536/
https://ncbi.nlm.nih.gov/pubmed/24383089
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