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Alpha-mannosidosis

Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, and their conditio...

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Detalles Bibliográficos
Autores principales: Malm, Dag, Nilssen, Øivind
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2515294/
https://www.ncbi.nlm.nih.gov/pubmed/18651971
http://dx.doi.org/10.1186/1750-1172-3-21