Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis

Molecular Genetics and Metabolism Reports

Volumn 1, Issue , 2014, Pages 455-460

  Yamada, Kenichiro ^a   Naiki, Misako ^b   Hoshino, Shin ^c   Kitaura, Yasuyuki ^d   Kondo, Yusuke ^d   Nomura, Noriko ^a   Kimura, Reiko ^a   Fukushi, Daisuke ^a   Yamada, Yasukazu ^a   Shimozawa, Nobuyuki ^e   Yamaguchi, Seiji ^f   Shimomura, Yoshiharu ^d   Miura, Kiyokuni ^b   Wakamatsu, Nobuaki ^a  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Kasugai Municipal Hospital   (Japan)

^d NAGOYA UNIVERSITY   (Japan)

^e GIFU UNIVERSITY   (Japan)

^f SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

Author keywords

HIBCH; Ketoacidosis; Leigh like disease; Valine catabolic pathway

Indexed keywords

3 HYDROXYISOBUTYRYL COENZYME A HYDROLASE DEFICIENCY; ACUTE HEART FAILURE; ARTERIAL PH; ARTICLE; ARTIFICIAL VENTILATION; AUDIOMETRY; AUTOSOMAL RECESSIVE DISORDER; BIRTH WEIGHT; BRAIN STEM RESPONSE; CARBON DIOXIDE TENSION; CASE REPORT; CAUDATE NUCLEUS; CONGENITAL MALFORMATION; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; ENZYME ACTIVITY; EXPRESSION VECTOR; FEMALE; GENETIC COUNSELING; HUMAN; JAPANESE (PEOPLE); KETOACIDOSIS; LEIGH DISEASE; METABOLIC ACIDOSIS; MISSENSE MUTATION; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; SUBARACHNOID HEMORRHAGE; TREATMENT OUTCOME; VAGINAL DELIVERY; WEIGHT GAIN;

EID: 84916605936     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2014.10.003     Document Type: Article

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