Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is included in many newborn screening (NBS) programs. Acylcarnitine‐based NBS for LCHADD not only identifies LCHADD, but also the other deficiencies of the mitochondrial trifunctional protein (MTP), a multi‐enzyme complex involved in lon...

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Detalles Bibliográficos
Autores principales: Schwantje, Marit, Fuchs, Sabine A., de Boer, Lonneke, Bosch, Annet M., Cuppen, Inge, Dekkers, Eugenie, Derks, Terry G. J., Ferdinandusse, Sacha, Ijlst, Lodewijk, Houtkooper, Riekelt H., Maase, Rose, van der Pol, W. Ludo, de Vries, Maaike C., Verschoof‐Puite, Rendelien K., Wanders, Ronald J. A., Williams, Monique, Wijburg, Frits, Visser, Gepke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546250/
https://www.ncbi.nlm.nih.gov/pubmed/35383965
http://dx.doi.org/10.1002/jimd.12502

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546250/
https://www.ncbi.nlm.nih.gov/pubmed/35383965
http://dx.doi.org/10.1002/jimd.12502

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