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

MOLECULAR GENETICS AND METABOLISM REPORTS Volume 6 Page 1-4 published_at 2016-03
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Title
A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis
Creator
Bo Ryosuke
Taketani Takeshi
Yamaguchi Seiji
Source Title
MOLECULAR GENETICS AND METABOLISM REPORTS
Volume 6
Start Page 1
End Page 4
Journal Identifire
ISSN 2214-4269
Subjects
Prenatal diagnosis; Mitochondrial trifunctional protein (TFP); Acylcarnitine analysis; Fatty acid oxidation; HADHA gene ( Other)
Language
eng
Resource Type journal article
Publisher
ELSEVIER SCIENCE BV
Date of Issued 2016-03
Access Rights metadata only access
Relation
[DOI] 10.1016/j.ymgmr.2015.11.005
[PMID] 27014569