Voprosy meditsinskoi khimii (ISSN 0042-8809)

Biochemical investigation of unusual cases of fabry disease

   
Beyer E.M., Karpova E.A., Udalova O.V., Tsvetkova I.V.
PubMed Id: 9916266
Year: 1998 vol: 44  issue:5  pages: 494-500
Abstract: Fourteen members of family P. and four members of family N. wereclinico-biochemically examined. Among twelve adult children(19-32 years old) of family P. five sons manifestedangiokeratotic skin lesions and other clinical signs of Fabrydisease. Three of the probands had additional symptoms notgenerally found in Fabry disease. Biochemical studies includingan enzyme assay, analysis of storage products and a-galactosidasemultiple forms, allowed us to confirm the diagnosis of Fabrydisease in four affected brothers and to establish theheterozygous status of their mother. The data of biochemicalinvestigation of patient N. with atypical variant of Fabrydisease are also presented. The patient N. with strong skinlesions had a high residual a-galactosidase activity and unusualcomposition of a-galactosidase multiple forms.
Download PDF:
Reference: Beyer E.M., Karpova E.A., Udalova O.V., Tsvetkova I.V., Biochemical investigation of unusual cases of fabry disease, Voprosy meditsinskoi khimii, 1998, vol: 44(5), 494-500.
References
 2002(Vol:48)
 2001(Vol:47)
 2000(Vol:46)
 1999(Vol:45)
 1998(Vol:44)
 1997(Vol:43)
 1996(Vol:42)