Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles

Heterozygote detection for angiokeratoma corporis diffusum (Anderson-Fabry disease, ACD), an X-linked disorder of glycosphingolipid metabolism was examined using alpha-galactosidase activity, an alpha-galactosidase/beta-galactosidase activity ratios (alpha/beta ratio) in leucocytes, plasma, and hair...

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Vydané v:	Journal of medical genetics Ročník 14; číslo 2; s. 91
Hlavní autori:	Spence, M W, Goldbloom, A L, Burgess, J K, D'entremont, D, Ripley, B A, Weldon, K L
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England 01.04.1977
Predmet:	Fabry Disease - diagnosis Fabry Disease - enzymology Fabry Disease - genetics Female Galactosidases - analysis Galactosidases - blood Hair - enzymology Heterozygote Humans Leukocytes - enzymology Male
ISSN:	0022-2593
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