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

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Use this link to cite this item : https://ir.lib.shimane-u.ac.jp/53556

language	eng
Author	Bo Ryosuke a Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Ennya-cho, Izumo, Shimane 6938501, Japan b Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunokicho, Chuo, Kobe, Hyogo 6500017, Japan HASEGAWA, Yuki YAMADA, Kenji Kobayashi, Hironori Taketani Takeshi Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Ennya-cho, Izumo, Shimane 6938501, Japan FUKUDA, Seiji Yamaguchi Seiji Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Ennya-cho, Izumo, Shimane 6938501, Japan
Subject	Prenatal diagnosis; Mitochondrial trifunctional protein (TFP); Acylcarnitine analysis; Fatty acid oxidation; HADHA gene
Journal Title	MOLECULAR GENETICS AND METABOLISM REPORTS
Volume	6
Start Page	1
End Page	4
ISSN	2214-4269
Published Date	2016-03
DOI	10.1016/j.ymgmr.2015.11.005
PubMed ID	27014569
Publisher	ELSEVIER SCIENCE BV
NII Type	Journal Article
OAI-PMH Set	Faculty of Medicine