1.
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
2.
J Reticuloendothel Soc
; 25(4): 345-50, 1979 Apr.
Article
in English
| MEDLINE
| ID: mdl-458775
3.
Prog Clin Biol Res
; 14: 103-27, 1977.
Article
in English
| MEDLINE
| ID: mdl-564511