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Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders

  • Published:2017-07 Issue:3 Volume:121 Page:279-282
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Herzog Katharina,van Lenthe Henk,Wanders Ronald J.A.,Vaz Frédéric M.,Waterham Hans R.,Ferdinandusse Sacha

Funder

FP-7-PEOPLE-2012-Marie Curie-ITN

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference18 articles.

1. Phytanic acid metabolism in health and disease;Wanders;Biochim. Biophys. Acta Mol. Cell Biol. Lipids,2011

2. Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism;Van Veldhoven;J. Lipid Res.,2010

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

4. Rhizomelic Chondrodysplasia Punctata Type 1;Braverman,1993

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

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