ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism-Reference-Cited by-同舟云学术

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

Published:2016-10-31 Issue:5 Volume:54 Page:330-337
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Ferdinandusse Sacha,Falkenberg Kim D,Koster Janet,Mooyer Petra A,Jones Richard,van Roermund Carlo W T,Pizzino Amy,Schrader Michael,Wanders Ronald J A,Vanderver Adeline,Waterham Hans R

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference25 articles.

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3. Human disorders of peroxisome metabolism and biogenesis;Waterham;Biochim Biophys Acta,2016

4. Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6;Ratbi;Am J Hum Genet,2015

5. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform;Baroy;Hum Mol Genet,2015

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