title: Ornithine transcarbamylase deficiency: findings and treatment in a symptomatic female heterozygote.
authors.affiliation: Institute of Child Health, Ag. Sophia Children's Hospital, Athens, Greece.
authors.forename: C
authors.initials: C
authors.lastname: Soulpis
authors.forename: D
authors.initials: D
authors.lastname: Markosoglou
authors.forename: F
authors.initials: F
authors.lastname: Papadelis
authors.forename: A
authors.initials: A
authors.lastname: Caraboula
authors.forename: S
authors.initials: S
authors.lastname: Giouroukos
authors.forename: A
authors.initials: A
authors.lastname: Skarpalezou
authors.forename: S
authors.initials: S
authors.lastname: Missìou-Tsagarakis
authors.forename: H
authors.initials: H
authors.lastname: Michelakakis
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D014057:Tomography, X-Ray Computed