Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.
J Inherit Metab Dis
; 18 Suppl 1: 90-100, 1995.
Article
em En
| MEDLINE
| ID: mdl-9053559
ABSTRACT
Dihydroxyacetone-phosphate acyltransferase (DHAPAT) is a peroxisomal enzyme catalysing the first step in ether-phospholipid biosynthesis. DHAPAT is deficient in cells from patients suffering from a variety of peroxisomal disorders. Accurate measurement of the activity of this enzyme is of great importance, especially since it is a central parameter in the prenatal diagnosis of the disorders of peroxisome biogenesis, rhizomelic chondrodysplasia punctata and DHAPAT-deficiency. We describe a straightforward and accurate assay allowing the activity of DHAPAT to be measured reliably in chorionic villus samples, blood cells, cultured skin fibroblasts, cultured chorionic villus fibroblasts and cultured amniocytes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Aciltransferases
/
Amostra da Vilosidade Coriônica
/
Vilosidades Coriônicas
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
J Inherit Metab Dis
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Holanda