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[Alpha-mannosidosis in two siblings]
B Dawydzik1, T Biegański, E Modzelewska
1Specjalistyczna Przychodnia Pediatryczna Centrum Zdrowia Matki Polki w Lodzi.
Pediatria Polska
|March 1, 1996
Abstract:
A rare metabolic disease, alpha-mannosidosis, is described in two siblings. Psychomotoric deficiency, deafness, coarse face and radiological changes in the skeletal system indicated an inherited lysosomal storage disease.