Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders
Author:
Funder
Metakids
Hersenstichting
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-017-0064-0/fulltext.html
Reference23 articles.
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3. Dacremont G, Vincent G (1995) Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts. J Inherit Metab Dis 18(Suppl 1):84–89
4. Duranti G, Boenzi S, Rizzo C et al (2008) Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders. Clin Chim Acta 398:86–89
5. Ebberink MS, Csanyi B, Chong WK et al (2010) Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet 47:608–615
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