title: Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier.
authors.affiliation: Genetics unit, Pediatrics Department, Mansoura University, Mansoura, Egypt. Electronic address: m.alhaggar@yahoo.co.uk.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Al-Haggar
authors.affiliation: Institute of Clinical Chemistry, University Hospital and University of Bern, Inselspital, Bern, Switzerland.
authors.forename: Carlo R
authors.initials: CR
authors.lastname: Largiadèr
authors.affiliation: Genetics unit, Pediatrics Department, Mansoura University, Mansoura, Egypt.
authors.forename: Dina
authors.initials: D
authors.lastname: Abdel-Hady
authors.affiliation: Hepatology unit, Pediatrics Department, Mansoura University, Mansoura, Egypt.
authors.forename: Tarik
authors.initials: T
authors.lastname: Barakat
authors.affiliation: Institute of Clinical Chemistry, Clinical Metabolism and Inborn Errors, University Hospital and University of Bern, Inselspital, Bern, Switzerland.
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Nuoffer
authors.affiliation: Obstetrics Department, Mansoura University, Mansoura, Egypt.
authors.forename: Abdel-Aziz
authors.initials: AA
authors.lastname: Al-Refaei
mesh_terms: D000641:Ammonia / Q000097:blood; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis / Q000235:genetics*; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: D000641:Ammonia
keywords: Female carrier; Menstrual neurologic symptoms; Ornithine transcarbamylase deficiency