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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Vydáno v:JIMD Rep
Hlavní autoři: Cathey, Sara S., Sarasua, Sara M., Simensen, Richard, Pietris, Katie, Kimbrell, Gordon, Sillence, David, Wilson, Callum, Horowitz, Lucia
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2019
Témata:
Research Reports
On-line přístup: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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