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Article

Alpha-mannosidosis.

Orphanet journal of rare diseases - 23 Jul 2008

Malm Dag, Nilssen Øivind

Abstract excerpt

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 condition worsens progressively. Some children are born with ankle equinus or develop hydrocephalus in the first year of...

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Identifiers

PMID: 18651971
DOI: 10.1186/1750-1172-3-21
PMCID: PMC2515294

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