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Acta Paediatr Hung ; 29(3-4): 331-6, 1988.
Article in English | MEDLINE | ID: mdl-3151983

ABSTRACT

The case of a 16 years old girl patient having angiokeratoma corporis diffusum with Fabry heterozygosity is published together with the clinical and genetical screening investigations of the family members. The problem of the detection of the heterozygotes is discussed.


Subject(s)
Fabry Disease/genetics , Galactosylgalactosylglucosylceramidase/deficiency , Adolescent , Adult , Child , Cornea/pathology , Fabry Disease/enzymology , Fabry Disease/pathology , Female , Galactosidases , Heterozygote , Humans , Kidney/pathology , Leukocytes/enzymology , Male , Skin/pathology
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