Blar i forfatter "Malm, Dag"
-
Alpha-mannosidosis
Malm, Dag; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2008-07-23)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 ...