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Rhizomelic chondrodysplasia punctata, type 2

Known as: Glyceronephosphate O-Acyltransferase Deficiency, DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY, Glyceronephosphate acyltransferase deficiency 
National Institutes of Health

Related topics

Related topics

12 relations
Autosomal recessive inheritanceByzanthine arch palateCataractContracture

Broader (1)

Chondrodysplasia Punctata, Rhizomelic

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
Singlet oxygen quenching and radical scavenging capacities of structurally-related flavonoids present in Zuccagnia punctata Cav.
The singlet oxygen (1O2) quenching and free radical (DPPH•, ABTS• + and O2• −) scavenging ability of three structurally-related… 
Review
2007
Review
2007
Chondrodysplasia Punctata and Maternal Autoimmune Disease: A New Case and Review of the Literature
Classic rhizomelic chondrodysplasia punctata is a rare, autosomal, recessively inherited disorder that is characterized by… 
2002
2002
Xanthones from Swertia punctata.
2000
2000
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT‐deficiency)
The case of a Yemeni girl with isolated peroxisomal acyl‐CoA:dihydroxyacetonephosphateacyltransferase (DHAPAT) deficiency is… 
2000
2000
Alkyl-dihydroxyacetonephosphate Synthase
Alkyl-dihydroxyacetonephosphate synthase is a peroxisomal enzyme involved in ether lipid synthesis. It catalyzes the exchange of… 
Highly Cited
1998
Highly Cited
1998
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.
Rhizomelic chondrodysplasia punctata (RCDP) is a genetic disorder which is clinically characterized by rhizomelic shortening of… 
Highly Cited
1997
Highly Cited
1997
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized clinically by a disproportionately… 
Review
1992
Review
1992
Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder
The peroxisomal disorders represent a genetically determined group of diseases in man in which there is an impairment in one or… 
Highly Cited
1989
Highly Cited
1989
Chinese hamster ovary cell mutants defective in peroxisome biogenesis. Comparison to Zellweger syndrome.
We have previously reported the isolation of Chinese hamster ovary (CHO) cell mutants that are defective in the biosynthesis of… 
1986
1986
Topodeme differentiation in Ontario taxa of Crataegus (Rosaceae: Maloideae): leaf morphometric evidence
Variation in the two-dimensional shape of short-shoot subterminal leaves was examined quantitatively in samples of nine topodemes… 
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