title: Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Toshiki
authors.initials: T
authors.lastname: Takenouchi
authors.forename: Yuki
authors.initials: Y
authors.lastname: Tsukahara
authors.forename: Reiko
authors.initials: R
authors.lastname: Horikawa
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis* / Q000235:genetics*; D057089:Pathology, Molecular / Q000379:methods; D010375:Pedigree; D011247:Pregnancy; D012189:Retrospective Studies; D014470:Umbilical Cord / Q000473:pathology*
keywords: inborn errors of metabolism; mummification; umbilicus; urea cycle disorders