A family study of 3-hydroxy-3-methylglutaric aciduria with 3 cases of sudden infant death.
- Author:
Fang HONG
;
Xinwen HUANG
1
;
Fan TONG
;
Jianbin YANG
;
Rulai YANG
;
Xuelian ZHOU
;
Xiaolei HUANG
;
Huaqing MAO
;
Zhengyan ZHAO
Author Information
- Publication Type:Case Reports
- MeSH: 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
- From: Chinese Journal of Pediatrics 2014;52(5):397-399
- CountryChina
- Language:Chinese
