Results 161 to 170 of about 3,709 (187)
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[Ornithine transcarbamylase deficiency in adult].
La Revue de medecine interne, 2011Ornithine transcarbamylase (OTC) deficiency is a X-linked inherited disorder characterized by hyperammoniemic encephalopathy in male neonates. However, there is an increased evidence of late-onset disease, including in adults.A 23-year-old woman presented with vomiting, somnolence, confusion and hyperammonemia.
D, Brajon +4 more
openaire +1 more source
Carrier detection in ornithine transcarbamylase deficiency
The Journal of Pediatrics, 1978J T, Hokanson +3 more
openaire +2 more sources
Targeted mRNA Therapy for Ornithine Transcarbamylase Deficiency
Molecular Therapy, 2018Pierrôt Harvie +2 more
exaly
REYE'S SYNDROME DUE TO A NOVEL PROTEIN-TOLERANT VARIANT OF ORNITHINE-TRANSCARBAMYLASE DEFICIENCY
Lancet, The, 1974N J Hoogenraad
exaly
Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update
Journal of Genetics and Genomics, 2015Ljubica Caldovic +2 more
exaly
Histopathological Findings in a male with Late-Onset Ornithine Transcarbamylase Deficiency
Pediatric Pathology, 1994Robert O Newbury +2 more
exaly
Long-Term Treatment of Girls with Ornithine Transcarbamylase Deficiency
New England Journal of Medicine, 1996Saul W Brusilow +2 more
exaly