Gene symbol: GCDH.  Disease: Glutaricacidaemia I.
Lin
Wei-De
WD
China Medical University Hospital, Department of Medical Genetics, College of Chinese Medicine, China MedicalUniversity, Asia University, Yuh-Der RD, No. 2, 404, Taichung, Taiwan ROC. d0704@www.cmuh.org.tw
Hwu
Wuh-Liang
WL
Wang
Chung-Hsing
CH
Chen
Chih-Ping
CP
Tsai
Fuu-Jen
FJ
D017398:Alternative Splicing; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D016022:Case-Control Studies; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D005977:Glutarates / Q000378:metabolism*; D050770:Glutaryl-CoA Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D053719:Tandem Mass Spectrometry
D018389:Codon, Nonsense; D005977:Glutarates; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid