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Intellectual functioning in alpha‐mannosidosis

Alpha‐mannosidosis is a rare inherited metabolic disorder (OMIM #248500) caused by mutations in the enzyme α‐mannosidase encoded by the gene MAN2B1. Patients have distinct physical and developmental features, but only limited information regarding standardized cognitive functioning of patients has b...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Cathey, Sara S., Sarasua, Sara M., Simensen, Richard, Pietris, Katie, Kimbrell, Gordon, Sillence, David, Wilson, Callum, Horowitz, Lucia
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6850974/
https://ncbi.nlm.nih.gov/pubmed/31741826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12073
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