| Authors | Fang Hong, Xinwen Huang, Fan Tong, Jianbin Yang, Rulai Yang, Xuelian Zhou, Xiaolei Huang, Huaqing Mao, Zhengyan Zhao |
| Journal | Zhonghua er ke za zhi = Chinese journal of pediatrics
(Zhonghua Er Ke Za Zhi)
Vol. 52
Issue 5
Pg. 397-9
(May 2014)
ISSN: 0578-1310 [Print] China |
| PMID | 24969942
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
| Chemical References |
- Hydroxymethylglutaryl-CoA Synthase
- Oxo-Acid-Lyases
- 3-hydroxy-3-methylglutaryl-coenzyme A lyase
|
| Topics |
- Amino Acid Metabolism, Inborn Errors
(diagnosis, genetics, therapy)
- Death, Sudden
(etiology)
- Hereditary Central Nervous System Demyelinating Diseases
(diagnosis, etiology)
- Humans
- Hydroxymethylglutaryl-CoA Synthase
(deficiency)
- Infant, Newborn
- Male
- Mutation
- Oxo-Acid-Lyases
(genetics)
- Spectrometry, Mass, Electrospray Ionization
- Tandem Mass Spectrometry
|
