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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Bibliographic Details
Published in:JIMD Rep
Main Authors: Cathey, Sara S., Sarasua, Sara M., Simensen, Richard, Pietris, Katie, Kimbrell, Gordon, Sillence, David, Wilson, Callum, Horowitz, Lucia
Format: Artigo
Language:Inglês
Published: John Wiley & Sons, Inc. 2019
Subjects:
Research Reports
Online Access: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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