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Article

Lethal ornithine transcarbamylase deficiency in a female neonate: a new case.

Acta paediatrica (Oslo, Norway : 1992) - 1 Feb 1998

Klosowski S, Largilliere C, Storme L, Rakza T, Rabier D, Lequien P

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Share to Amino Acid Metabolism, Inborn Errors
Share to Ammonia
Share to Fatal Outcome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ornithine Carbamoyltransferase Deficiency Disease

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Identifiers

PMID: 9512214
DOI: 10.1080/08035259850157723

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Lethal ornithine transcarbamylase deficiency in a female neonate: a new case.PMID 9512214Read ↗

Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.Semantic proximity Read ↗

Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene.Semantic proximity Read ↗

Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature ReviewSemantic proximity Read ↗

Coagulopathy unmasking hepatic failure in a child with ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Diagnosis of ornithine transcarbamylase deficiency secondary to p.Leu301Phe mutation in an adult patient.Semantic proximity Read ↗

Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.Semantic proximity Read ↗

Late-onset ornithine transcarbamylase deficiency in male patients.Semantic proximity Read ↗

Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.Semantic proximity Read ↗

Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy maleSemantic proximity Read ↗

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.Semantic proximity Read ↗

Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.Semantic proximity Read ↗

Fatal initial adult-onset presentation of urea cycle defect.Semantic proximity Read ↗

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