Description of the Lesch‐Nyhan neurobehavioral disorder and its management through participant observation of three young individuals

BACKGROUND: Lesch‐Nyhan disease (LND; OMIM 300322), caused by virtually absent hypoxanthine‐guanine phosphoribosyltransferase activity, in its classic form is characterised by hyperuricemia, variable cognitive impairment, severe motor disorder and a characteristic behavioural disorder (Lesch‐Nyhan B...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Bozano, Anna, Schiaffino, Alessandra, Spessa, Alessandra, Valeriani, Francesca, Mancinelli, Raimondo, Micheli, Vanna, Dolcetta, Diego
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Research Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7052696/
https://ncbi.nlm.nih.gov/pubmed/32154061
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12100
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