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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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| Pubblicato in: | JIMD Rep |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley & Sons, Inc.
2019
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| Soggetti: | |
| Accesso online: | 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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