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Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency

We encountered a patient with mitochondrial trifunctional protein deficiency in whom the corresponding mutations were not identified by a DNA panel for newborn screening for targeted diseases. After diagnosis confirmation by an enzyme assay and immunoblotting using the autopsied liver, the re-evalua...

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Detalles Bibliográficos
Autores principales:	Nakama, Mina, Sasai, Hideo, Kubota, Mitsuru, Hasegawa, Yuki, Fujiki, Ryoji, Okuyama, Torayuki, Ohara, Osamu, Fukao, Toshiyuki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118068/ https://www.ncbi.nlm.nih.gov/pubmed/32257295 http://dx.doi.org/10.1038/s41439-020-0097-z

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