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...

Descripción completa

Detalles Bibliográficos
Autores principales: Cathey, Sara S., Sarasua, Sara M., Simensen, Richard, Pietris, Katie, Kimbrell, Gordon, Sillence, David, Wilson, Callum, Horowitz, Lucia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850974/
https://www.ncbi.nlm.nih.gov/pubmed/31741826
http://dx.doi.org/10.1002/jmd2.12073

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850974/
https://www.ncbi.nlm.nih.gov/pubmed/31741826
http://dx.doi.org/10.1002/jmd2.12073

Ejemplares similares