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Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database

PURPOSE: Mitochondrial trifunctional protein deficiency (TFPD) and isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) are two related defects of fatty acid β -oxidation. While NBS has decreased mortality, morbidity remains significant. Additionally, the relationship of genotype...

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Detalles Bibliográficos
Autores principales:	Lim, Chelsey Chaehee, Vockley, Jerry, Ujah, Otobo, Kirby, Russell S., Edick, Mathew J., Berry, Susan A., Arnold, Georgianne L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167967/ https://www.ncbi.nlm.nih.gov/pubmed/35677112 http://dx.doi.org/10.1016/j.ymgmr.2022.100884

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