A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis

Mitochondrial trifunctional protein (TFP) is a multienzyme complex that catalyzes the last three steps of the β-oxidation cycle of long-chain fatty acids. In the prenatal diagnosis of TFP deficiency, acylcarnitine (AC) analysis has been considered difficult because of limited excretion of long-chain...

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Detalles Bibliográficos
Autores principales: Bo, Ryosuke, Hasegawa, Yuki, Yamada, Kenji, Kobayashi, Hironori, Taketani, Takeshi, Fukuda, Seiji, Yamaguchi, Seiji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789351/
https://www.ncbi.nlm.nih.gov/pubmed/27014569
http://dx.doi.org/10.1016/j.ymgmr.2015.11.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789351/
https://www.ncbi.nlm.nih.gov/pubmed/27014569
http://dx.doi.org/10.1016/j.ymgmr.2015.11.005

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