Article
Early onset alpha-mannosidosis with slow progression in three Hispanic males.
Developmental medicine and child neurology - 1 Nov 2007
Lyons Michael J, Wood Tim, Espinoza Lesby, Stensland Hilde Monica Frostad Riise, Holden Kenton R
Abstract excerpt
Alpha-mannosidosis (AMS) is an autosomal recessive lysosomal storage disorder which results from a deficiency of lysosomal alpha-mannosidase [corrected] activity and displays a wide range of clinical phenotypes. Patients have traditionally been divided into type I, a more severe form that presents in infancy, and type II, a milder form that typically presents in later childhood. We describe three Hispanic males...
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