| 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
|
| Language |
eng
|
| Resource Type | journal article |
| Publisher |
ELSEVIER SCIENCE BV
|
| Date of Issued | 2016-03 |
| Access Rights | metadata only access |
| Relation |
[PMID]
27014569
|