Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency is a rare autosomal disorder of de novo purine synthesis, which results in the accumulation of succinylpurines in body fluids. Patients with adenylosuccinate lyase deficiency show a variable combination of mental retardation, epilepsy and autistic features and are u...

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Detalhes bibliográficos
Main Authors: Gitiaux, Cyril, Ceballos-Picot, Irène, Marie, Sandrine, Valayannopoulos, Vassili, Rio, Marlène, Verrieres, Séverine, Benoist, Jean François, Vincent, Marie Françoise, Desguerre, Isabelle, Bahi-Buisson, Nadia
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2985950/
https://ncbi.nlm.nih.gov/pubmed/18830228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.174
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