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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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| Publicat a: | JIMD Rep |
|---|---|
| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley & Sons, Inc.
2019
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| Matèries: | |
| Accés en línia: | 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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