Mutation analysis of urea cycle disorders

No abstract is available for this paper.

• Publication year

  2014

• Venue

  Journal of Pediatric Biochemistry

• Publication date

  2014-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1055/s-0036-1586459
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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  2011cited by this paper
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  2009cited by this paper
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  2009cited by this paper
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  2006influential reference
• Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: report of a 15 years, experience

  2006cited by this paper
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  2005cited by this paper
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  2005cited by this paper
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  2005cited by this paper
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  2004cited by this paper
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  2003cited by this paper
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  2003cited by this paper
• Mutation analysis in patients with N‐acetylglutamate synthase deficiency

  2003cited by this paper
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  2003cited by this paper
• Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay

  2003cited by this paper
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  2003cited by this paper
• Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia

  2003cited by this paper
• Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

  2002cited by this paper
• Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine+arginine ratio in amniotic fluid

  2002cited by this paper
• Cloning and expression of the human N-acetylglutamate synthase gene.

  2002cited by this paper
• Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene

  2002cited by this paper
• Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia

  2002cited by this paper
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  2002cited by this paper
• Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

  2002cited by this paper
• N‐acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy

  2002cited by this paper
• Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

  2001cited by this paper
• Laboratory evaluation of urea cycle disorders.

  2001cited by this paper
• Urea cycle enzymes

  2001cited by this paper
• Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X

  2001cited by this paper
• Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts

  2001cited by this paper
• The molecular basis of ornithine transcarbamylase deficiency

  2000cited by this paper
• Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

  2000cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  1999cited by this paper
• Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

  1999cited by this paper
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  1999cited by this paper
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  1999cited by this paper
• Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1

  1998cited by this paper
• The biochemical and molecular spectrum of ornithine transcarbamylase deficiency

  1998cited by this paper
• Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency

  1998cited by this paper
• Molecular genetic research into carbamoyl-phosphate synthase I: Molecular defects and linkage markers

  1998cited by this paper
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  1998cited by this paper
• Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood

  1998cited by this paper
• Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

  1997cited by this paper
• USE OF AMNIOTIC FLUID AMINO ACIDS IN PRENATAL TESTING FOR ARGININOSUCCINIC ACIDURIA AND CITRULLINAEMIA

  1996cited by this paper
• Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.

  1995cited by this paper
• Ornithine transcarbamylase deficiency: new sites with increased probability of mutation

  1995cited by this paper
• Seven new mutations in the human ornithine transcarbamylase gene

  1994cited by this paper
• Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia

  1994cited by this paper
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  1992cited by this paper
• The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency.

  1992cited by this paper
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  1992cited by this paper
• Molecular genetic study of human arginase deficiency.

  1992cited by this paper
• Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.

  1991cited by this paper
• Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency.

  1991cited by this paper
• Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.

  1991cited by this paper
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  1991cited by this paper
• Prenatal diagnosis of citrullinaemia: Review of a 10‐year experience including recent use of DNA analysis

  1990cited by this paper
• Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

  1990cited by this paper
• Epstein-Barr virus latent gene expression during the initiation of B cell immortalization.

  1989cited by this paper
• Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity.

  1989cited by this paper
• Molecular cloning and nucleotide sequence of cDNA for human liver arginase.

  1987cited by this paper
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  1986cited by this paper
• New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

  1986cited by this paper
• The gene coding for carbamoyl-phosphate synthetase I was formed by fusion of an ancestral glutaminase gene and a synthetase gene.

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  1984cited by this paper
• Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.

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• Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line.

  1981cited by this paper

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