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Toshinobu Matsuura

Kumamoto University

34

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Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations

2010 Journal of Human Genetics
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Clinical Manifestations of Inborn Errors of the Urea Cycle and Related Metabolic Disorders during Childhood

2004 Journal of Nutrition
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Ornithine transcarbamylase deficiency (OTCD)

1998 Ryōikibetsu shōkōgun shirīzu
- Toshinobu Matsuura
- Ichiro Matsuda
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Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.

1998 Human Mutation
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The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients

1997 Human Genetics
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Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency

1997 American Journal of Medical Genetics
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Prenatal Monitoring in a Family at High Risk for Ornithine Transcarbamylase (OTC) Deficiency: A New Mutation of an A-to-C Transversion in Position +4 of Intron 1 of the OTC Gene That Is Likely to Abolish Enzyme Activity

1996 American Journal of Medical Genetics
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Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

1996 Journal of Medical Genetics
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A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency

1995 Journal of Inherited Metabolic Disease
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Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency

1995 Journal of Inherited Metabolic Disease
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Citations (10)