Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.

Author:

Barr D G,Kirk J M,al Howasi M,Wanders R J,Schutgens R B

Publisher

BMJ

Subject

Pediatrics, Perinatology and Child Health

Reference7 articles.

1. Disorders of peroxisome biogenesis;Lazarow, P.B.; Moser, H.W.,1989

2. Acyl CoA: dihydroxyacetone phosphate acyl transferase in human skin fibroblasts: study of the properties using a new assay method;Schutgens, R.B.H.; Romeiin, G.J.; Ofman, R.; van den Bosch, H.; Tager, J.M.; Wanders, R.J.A.;Biochim Biophys Acta,1986

3. Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors;Schrakamp, G.; Schalkwijk, C.G.; Schutgens, R.B.H.; Wanders, R.J.A.; Tager, J.M.; van den Bosch, H.;JLipid Res,1988

4. Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals;Bjorkhem, I.; Sisfontes, L.; Bostrom, B.; Kase, B.F.; Blomstrand, R.;J Lipid Res,1986

5. Multiple peroxisomal enzyme deficiencies in rhizomelic chondrodysplasia punctata;Schutgens, R.B.H.; Heymans, H.S.A.; Wanders, R.J.A.;Advances in Clinical Enzymology,1988

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