Natural history of alpha mannosidosis a longitudinal study

BACKGROUND: Alpha-Mannosidosis is a rare lysosomal storage disorder, caused by the deficiency of the enzyme alpha-Mannosidase. Clinically it is characterized by hearing impairment, skeletal and neurological abnormalities and mental retardation. In order to characterize the clinical features and dise...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Beck, Michael, Olsen, Klaus J, Wraith, James E, Zeman, Jiri, Michalski, Jean-Claude, Saftig, Paul, Fogh, Jens, Malm, Dag
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2013
Pynciau:
Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3691585/
https://ncbi.nlm.nih.gov/pubmed/23786919
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-88
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