Ornithine transcarbamylase deficiency: findings and treatment in a symptomatic female heterozygote.
Soulpis
C
C
Institute of Child Health, Ag. Sophia Children's Hospital, Athens, Greece.
Markosoglou
D
D
Papadelis
F
F
Caraboula
A
A
Giouroukos
S
S
Skarpalezou
A
A
Missìou-Tsagarakis
S
S
Michelakakis
H
H
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