| Title |
A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth
|
| Creator |
Bo Ryosuke
|
| Source Title |
MOLECULAR GENETICS AND METABOLISM REPORTS
|
| Volume | 11 |
| Start Page | 59 |
| End Page | 61 |
| Journal Identifire |
ISSN 2214-4269
|
| Subjects |
Carnitine palmitoyltransferase deficiency; Tandem mass spectrometry; Newborn screening; False negative; Serum acylcarnitine
|
| Language |
eng
|
| Resource Type | journal article |
| Publisher |
ELSEVIER SCIENCE BV
|
| Date of Issued | 2017-06 |
| Access Rights | metadata only access |
| Relation |
[DOI] 10.1016/j.ymgmr.2017.04.008
[PMID] 28516040
|
| Remark | This study was supported by JSPS KAKENHI (grant numbers JP16K21179). |
