ArticleEuropean journal of pediatrics1996
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.
Article in European journal of pediatrics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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4 citing papers in PubMed, 22 citations in OpenAlex.
- A brief history of the human liver peroxisome.Histochemistry and cell biology · 2026Review
- Oral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid-deficient mice.Journal of inherited metabolic disease · 2020Article
- Peroxisome biogenesis disorders.Translational science of rare diseases · 2016Article
- Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.Journal of inherited metabolic disease · 2001Review
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Authors and funding
9 authors at 4 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
unlabelledRhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts. In the classical form an impairment of several peroxisomal functions and enzymes (plasmalogen synthesis, phytanic acid oxidation, 3-oxoacyl-CoA thiolase) has been repeatedly shown. Recently a variant involving only the peroxisomal dihydroxyacetonephosphate acyltransferase (DHAP-AT) has been described. We present a patient with isolated DHAP-AT deficiency and all clinical, radiological and pathological features of classical RCDP. For the first time, microscopy and immunocytochemistry of hepatocytes could be performed.
conclusionIn contrast to studies on classical rhizomelic chondrodysplasia punctata which have shown enlarged peroxisomes in numbers varying from hepatocyte to hepatocyte, the peroxisomes in our patient seem to be normal in size, number and shape.
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