R173W mutation of hydroxymethylbilane synthetase is associated with acute intermittent porphyria complicated with rhabdomyolysis: the first report.
*Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University †Department of Internal Medicine, Division of Gastroenterology and Hepatology Taipei Medical University Hospital ‡Faculty of Medicine, School of Medicine National Yang Ming University §Department of Pediatrics, Taipei Veterans General Hospital ∥Institute of Clinical Medicine, School of Medicine, National Yang Ming University, Taipei, Taiwan.
Mei-Chuan
MC
Chen
Chen-Jung
CJ
Chang
Yung-Hsiu
YH
Lu
Dau-Ming
DM
Niu
Horng-Yuan
HY
Lou
Chun-Chao
CC
Chang
D000328:Adult; D004252:DNA Mutational Analysis; D005091:Exons; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017118:Porphyria, Acute Intermittent / Q000150:complications / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D012206:Rhabdomyolysis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D012307:Risk Factors
D011163:Hydroxymethylbilane Synthase