An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio

Barth syndrome is an X‐linked disorder characterized by cardiomyopathy, skeletal myopathy, and neutropenia, caused by deleterious variants in TAFAZZIN. This gene encodes a phospholipid‐lysophospholipid transacylase that is required for the remodeling of the mitochondrial phospholipid cardiolipin (CL...

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Detalles Bibliográficos
Autores principales: Vaz, Frédéric M., van Lenthe, Henk, Vervaart, Martin A. T., Stet, Femke S., Klinkspoor, Johanne H., Vernon, Hilary J., Goorden, Susan M. I., Houtkooper, Riekelt H., Kulik, Willem, Wanders, Ronald J. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291596/
https://www.ncbi.nlm.nih.gov/pubmed/34382226
http://dx.doi.org/10.1002/jimd.12425

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291596/
https://www.ncbi.nlm.nih.gov/pubmed/34382226
http://dx.doi.org/10.1002/jimd.12425

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