CLINICAL AND BIOCHEMICAL DELINEATION OF ASPARTYL-GLYCOSAMINURIA AS OBSERVED IN 2 MEMBERS OF AN ITALIAN FAMILY
- 1 January 1981
- journal article
- research article
- Vol. 36 (2) , 179-189
Abstract
Two members of a consanguineous Italian family with symptoms of aspartylglycosaminuria are described. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multivacuolated lymphocytes. Enzyme studies in leukocytes and cultured fibroblasts showed an absence of aspartylglucosaminidase activity. Urinary analysis demonstrated abnormal oligosacchariduria and aspartylglycosamine excretion. Angiokeratoma corporis diffusum was observed in one patient.This publication has 6 references indexed in Scilit:
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