ArticleJournal of inherited metabolic disease1995
Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.
Article in Journal of inherited metabolic disease, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.Journal of neurology · 2016Article
- Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.Journal of inherited metabolic disease · 2016Article
- Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.JIMD reports · 2016Article
- The neurology of rhizomelic chondrodysplasia punctata.Orphanet journal of rare diseases · 2013Article
- Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.AJNR. American journal of neuroradiology · 2006Article
- A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.American journal of human genetics · 2002Article
- Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.American journal of human genetics · 2001Article
- A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids.Journal of inherited metabolic disease · 1997Article
- Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.European journal of pediatrics · 1996Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
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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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