Use of immunocytochemical analysis of a duodenal biopsy specimen to identify a carrier of ornithine transcarbamylase deficiency.
Hamano
Y
Y
Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Kodama
H
H
Fujikawa
Y
Y
Tanaka
Y
Y
Nishimura
K
K
Yanagisawa
M
M
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000641:Ammonia / Q000097:blood; D001706:Biopsy; D004386:Duodenum / Q000201:enzymology*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006651:Histocytochemistry; D006801:Humans; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000201:enzymology*; D008099:Liver / Q000201:enzymology; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D000641:Ammonia