A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency-Reference-Cited by-同舟云学术

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency

Published:2002-10 Issue:2-3 Volume:1584 Page:91-98
ISSN:1388-1981
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Author:

Okun Jürgen G,Kölker Stefan,Schulze Andreas,Kohlmüller Dirk,Olgemöller Katharina,Lindner Martin,Hoffmann Georg F,Wanders Ronald J.A,Mayatepek Ertan

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology

Reference20 articles.

1. Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

2. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK

3. Regional variations in medium-chain acyl-CoA dehydrogenase-deficiency;Seddon;Lancet,1995

4. A Survey of the Newborn Populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 Variant Allele with Haplotype Analysis at the Medium Chain Acyl-CoA

5. Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*

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