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Epidemic and genetic analysis of congenital hyperammonemia

Research Project

Project/Area Number 62304042
Research Category

Grant-in-Aid for Co-operative Research (A)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionKumamoto University

Principal Investigator

MATSUDA Ichiro  Kumamoto University Medical School Department of Pediatrics Professor, 医学部, 教授 (10000986)

Co-Investigator(Kenkyū-buntansha) MORI Masataka  Kumamoto University Medical School Institute of Medical Genetics Professor, 医学部, 教授 (40009650)
YAMASHITA Fumio  Kurume University School of medicine Institute of Medical Genetics Professor, 医学部, 教授 (20080723)
KITAGAWA Teruo  Nihon University School of Medicine Department of Pediatrics Professor, 医学部, 教授 (50058765)
NARISAWA Kuniaki  Tohoku University School of Medicine Department of Biochemical Genetics Professo, 医学部, 教授 (90004647)
OYANAG Kazuhiko  Sapporo Medical College Department of Pediatrics Associate Professor, 助教授 (10045388)
Project Period (FY) 1987 – 1989
Project Status Completed (Fiscal Year 1989)
Budget Amount *help
¥12,100,000 (Direct Cost: ¥12,100,000)
Fiscal Year 1989: ¥3,100,000 (Direct Cost: ¥3,100,000)
Fiscal Year 1988: ¥4,000,000 (Direct Cost: ¥4,000,000)
Fiscal Year 1987: ¥5,000,000 (Direct Cost: ¥5,000,000)
KeywordsCongenital hyperammonemia / Urea cycle disorders / Organic acidemia / Retrospective survey / Mutant enzyme / DNA analysis / Mutant gene / 遺伝子解析 / カルニチン代謝 / 高アンモニア血症 / 尿素サイクル酵素のcDNA / ゲノムDNA / DNA診断
Research Abstract

1. Retrospective survey of congenital hyperammonemia 154 patients with urea cycle disorders and 124 patients with organic acidemia, lysinuric protein intolerance, hyperonithinemia-hyperammonemia- homocitrullinemia syndrome and others accompanying with hyperammonemia were identified during 1978-1988 in Japan. Further detailed data were obtained from 95 and 69 patients of the former and the latter groups, respectively. OTC (Ornithine transcarbamylase) deficiency (X-linked inheritance) is the most common disease in urea cycle disorders (59 %), an incidence of which was estimated to be 1/50,000 to 80,000. It was found that an incidence of late onset type of male OTC deficiency is higher than hitherto considered, and the age of oldest onset was unexpectedly high, being 56-year-old. The most common of organic acidemia was methylmaronic acidemia and 58 patients with the disease were identified during the survey period.
2. Treatment of congenital hyperammonemia In addition to standard therapy; … More low protein diet and essential amino acids supplementation, L-carnitine administration was found to be effective in patients with OTC deficiency, CPS deficiency and organic acidemia.
3. Gene analysis of urea cycle disorders OTC deficiency: DNA analysis of one male patient with 0 percent of control activity revealed C to T substitution in exon 5, generating a stop codon in place of normal arginine at amino acids 109 of OTC protein. Analysis of other two male patients, of whom enzyme activities ranged from 16-19 % of control, revealed C to T substitution in exon 8, generating Trp to Arg at 277 of OTC protein. Arginase deficiency: DNA analysis of mutant enzyme in one patients with 0 percent of control activity revealed 4 base deletion in exon 3 in one allele and one base deletion in exon 2 in another allele, both of which generate stop codon at residue 132 and 31, respectively. Citrullinemia: Analysis of mutant arginino succinate synthetase gene of one patient with early onset revealed deletion of the exon 7 in one allele and C to T substitution at 310 residue in another allele, the latter generating Arg to Trp missense mutation. Less

Report

(4 results)
  • 1989 Annual Research Report   Final Research Report Summary
  • 1988 Annual Research Report
  • 1987 Annual Research Report
  • Research Products

    (115 results)

All Other

All Publications (115 results)

  • [Publications] Masataka Mori: "Molecular aspects of urea cycle enzyme and related disorders." Enzyme. 38. 220-226 (1987)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Ichiro Matsuda: "Attempts to investigate the molecular basis of ureacycle disorders." Acta.Paediatr.Jpn.29. 505-509 (1987)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akira Ohtake: "Ornithine transcarbamylase deficiency in SPF and SPF-ASH mice:genes,mRNAs and mRNA precursors." Biochem.Biophys.Res.Comm.146. 2065-1070 (1987)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masaki Takiguchi: "Structure of the rat ornithine carbamoyltransferase ene,a large,X chromosome-linked gene with an atypical promoter." Proc.Natl.Acad.Sci.USA. 84. 6136-6140 (1987)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yougo Haraguchi: "Molecular cloning and nucleotide sequence of cDNA for human liver arginase." Proc.Natl.Acad.Sci.USA. 84. 412-415 (1987)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akira Ohtake: "Structural organization of the gene for rat liver-type arginase." J.Biol.Chem.263. 2245-2249 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Seiji Matuo: "Isolation of cDNA clones of human argininosuccenate lyase and corrected amino acid sequence." FEB. 234. 395-399 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masaki Takiguchi: "Structure of the gene and analysis of the promoter region." Nucleic Acids Research. 16. 8789-8802 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yougo Haraguchi: "Sequence heterogeneity of human liver araginase cDNAs and restriction gragment length polymorphism of the gene locus." Jpn.J.Human.Genet.33. 305-313 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Seiji Matuo: "Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence." FEB. 234. 395-399 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yoshihiro Amaya: "Amino acid sequence of rat argininosuccinate lyase deduced from cDNA." J.Biochem.103. 177-181 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akira Hata: "Structure of the human ornithine transcarbamylase geme." J.Biochem.103. 302-308 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yoshinobu Ohtani: "Secondary carnithine deficieny in hyperammonemic attacks of orhithine transcarbamylase deficiency." J.Pediatr.112. 409-414 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Shinji Nakamura: "Blood ammonium level in low birth weight infants in relation to arginine intake." Acta.Paediatr.Jpn.30. 692-695 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] A.Hata: "Structural organization of the human ornithine transcarbamylase gene." J.Inher.Metab.Dis.11. 337-340 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akira Hata: "Structure of the Human Ornithine transcarbamylase gene." J.Biochem.103. 302-308 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] 土山晃: "オルニチントランスラルバミラ-ゼ部分欠損症の母親より生まれ、、二次性カルニチン欠損症を呈した双生児例" 日本小児科学会雑誌. 92. 2617-1988 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yukio.Yage: "The heterogeneous distribution of argininosuccinate synthetase in the liver of type II cltrullinemic patients." Am.J.Clin.Pathology. 89. 735-741 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] M.Tatsuno: "Analysis of argininosuccinic aciduria by enzyme-linked imunosorbent assay of argininosuccinate lyase." Chin.Chem.Enzyme.Comm.1. 177-184 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Ituro Inoue: "Comparison of two procedures for obtaining brain extract,decapitation and microwave irradiation." Biochem.Med.Metab.Biol.42. 232-239 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masahiro Kikuchi: "Assay of methylmalonyl CoA mutase with high-performance loquid chromatograpy." Clinica Chimica Acta.184. 307-314 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yosushi Isashiki: "Identification of essential arginine residue(s)for Mg-ATP binding of human argininosuccinate synthetase." Protein Sequences & Data Analysis. 2. 283-287 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] J.Morita: "Persistent hyperkalaemia in vitamin B_<12> Unresponsive methylmalonic acidamia." J.Inher.Metab.Dis. 12. 89-93 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Kuniaki Narisawa: "3-methylglutacony-CoA hydratase,3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies:a coupled enzyme assay useful for their detection." Clinica Chimica Acta.184. 57-64 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masayoshi Magao: "Neonatal hypermmonemia associated with darnitine deficiency." Tohoku J.Exp.Med.158. 317-323 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Tadashi Matsubasa: "Close similarity to chicken-crystallin genes." Proc.Natl.Acad.Sci.USA. 86. 592-596 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] J.Morita: "Persistent hyperkalaimia in vitamin B_<12> unresponsive methylmalonic acidaemia." J.Inher.Metab.Dis.12. 89-93 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akira Hata: "Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the arnithine transcarbamylase gene." Am.J.Hum.Genet.45. 123-127 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] A.Hata: "Study of a female patient with ornithine transcarbamylase deficiency:Detection of a nonsense mutation." J.Inher.Metab.Dis.12. 347-350 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] J.Morita: "Persistent hyperkalaemia in vitamin B_<12> unresposive methylmalonic acidaemia." J.Inher.Metab.Dis.12. 89-93 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Ichiro Matsuda: "Structure of the ornithine transcarbamylase(OTC)gene and DNA diagnosis of OTC deficiency." Clinica Chimica Acta.185. 283-290 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masayoshi Magao: "Secondary carnitine deficiency in the newborn periodin twins of a mother with partial ornithine transcarbamylase deficiency." J.Pediatrics. 115. 611-614 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Toshiro Nakamura: "Carnitine status and blood ammonium levels in low birth weight infants." J.pediat.Gas.Nutl.10. 66-70 (1990)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yasushi Imamura: "Urea bycle disorder in C3H-H-2^0 mice with juvenile steatosis of viscera." FEB. 260. 119-121 (1990)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masahiro Kikuchi: "Enzymatic diagnosis of 3-Hydroxy-3-methylglutaryl CoA lyase deficiency with hyghperformance liquid chromatography." Ckinida.Chimica.Acta.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] M.Yoshino: "Ornithine transcarbamylase deficiency in male adolescence and adulthood." Enzyme.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Keiko Kobayashi: "Heterogeneity of mutations in argininosuccinate synthetase gausing human citrullinemia." JBC.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] I.Matsuda: "Retrospective survey of urea cycle disorders.Part 1:Clinical and labotatory observations of thirty-two male Japanese patients with ornithine transcarbamylase."

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akira Hata: "A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarabamylase deficiency."

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yougo Haraguchi: "Molecular basis of argininemia:identification of two discrete grame-shift deletions in the lever-type arginase gene."

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masataka Mori: "Molecular aspects of urea cycle enzyme and related disorders." Enzyme. 38. 220-226 (1987)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Ichiro Matsuda: "Attempts to investigate the molecular basis of ureacycle disorders." Acta. Paediatr. Jpn. 29:505-509, 1987.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akira Ohtake: "Ornithine transcarbamylase deficiency in SPF and SPF-ASH mice: genes, mRNAs and mRNA precursors." Biochem. Biophys. Res. Comm. 146:2065-1070, 1987.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masaki Taniguchi: "Structure of the rat ornithine carbamoyltransferase gene, a large, X chromosomelinked gene with an atypical promoter" Proc. Natl. Acad. Sci. USA, 1987.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yougo Haraguchi: "Molecular cloning and nucleotide sequence of cDNA for human liver arginase." Proc. Natl. Acad. Sci. USA, 1987.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akira Ohtake: "Structural organization of the gene for rat liver-type arginase." J. Biological Chem. 263:2245-2249, 1988.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Seiji Matsuo: "Isolation of cDNA clones of human argininosuccenate lyase and corrected amino acid sequence." FEB 234:395-399, 1988.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masaki Atkiguchi: "Structure of the gene and analysis of the promoter region." Nucleic Acids Research 16:8789-8802, 1988.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yougo Haraguchi: "Sequence heterogeneity of human liver arginase cDNAs and restriction gragment length polymorphism of the gene locus." Jpn. J. Human. Genet. 33:305-313, 1988.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Seiji Matsuo: "Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence." FEB 234:395-399, 1988.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yoshihiro Amaya: "Amino acid sequence of rat argininosuccinate lyase deduced from cDNA." J. Biochem. 103:177-181, 1988.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akira Hata: "Structure of the human ornithine transcarbamylase gene." J. Biochem. 103:302-308, 1988.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yoshinobu Ohtani: "Secondary carnithine deficieny in hyperammonemic attacks of ornithine transcarbamylase deficiency." J. Pediatr. 112:409-414, 1988.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Shinji Nakamura: "Blood ammonium level in low birth weight infants in relation to arginine intake." Acta. Paediatr. Jpn. 30:692-695, 1988.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] A. Hata: "Structural organization of the human ornithine transcarbamylase gene." J. Inher. Metab. Dis. 11:337-340, 1988.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akira Hata: "Structure of the Human Ornithine transcarbamylase gene." J. Biochem. 103:302-308, 1988.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yukio Yage: "The heterogeneous distribution of argininosuccinate synthetase in the liver of type II cltrullinemic patients." Am. J. Clin. Pathology 89:735-741, 1988.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] M. Tatsuno: "Analysis of argininosuccinic aciduria by enzyme-linked immunosorbent assay of argininosuccinate lyase." Chin. Chem. Enzyme. Comm. 1:177-184, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Itsuro Inoue: "Comparison of two procedures for obtaining brain extract, decapitation and microwave irradiation." Biochem. Med. Metab. Biol. 42:232-239, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masahiro Kikuchi: "Assay of methylmalonyl CoA mutase with high-performance liquid chromatograpy." Clinica Chimica Acta. 184:307-314, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yosushi Isashiki: "Identification of essential arginine residue(s) for Mg-ATP binding of human argininosuccinate synthetase." Protein Sequences & Data Analysis 2:283-287, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] J. Morita: "Persistent hyperkalaemia in vitamin B_<12> Unresponsive methylmalonic acidamia." J. Inher. Metab. Dis 12:89-93, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Kuniaki Narisawa: "3-methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection." Clinica Chimica Acta. 184:57-64, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masayoshi Nagao: "Neonatal hyperammonemia associated with carnitine deficiency." Tohoku J. Exp. Med. 158:317-323, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Tadashi Matsubasa: "Close similarity to chicken-crystallin genes." Proc. Natl. Acad. Sci. USA 86:592-596, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] J. Morita: "Persistent hyperkalaemia in vitamin B_<12> unresponsive methylmalonic acidaemia." J. Inher. Metab. Dis. 12:89-93, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akira Hata: "Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene." Am. J. Hum. Genet. 45:123-127, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] A. Hata: "Study of a female patient with ornithine transcarbamylase deficiency: Detection of a nonsense mutation." J. Inher. Metab. Dis. 12:347-350, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] J. Morita: "Persistent hyperkalaemia in vitamin B_<12> unresponsive methylmalonic acidaemia." J. Inher. Metab. Dis. 12:89-93, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Ichiro Matsuda: "Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency." Clinica Chimica Acta. 185:283-290, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masayoshi Magao: "Secondary carnitine deficiency in the newborn periodin twins of a mother with partial ornithine transcarbamylase deficiency." J. Pediatrics 115:611-614, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Toshiro Nakamura: "Carnitine status and blood ammonium levels in low birth weight infants." J. pediat. Gas. Nutl. 10:66-70, 1990.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yasushi Imamura: "urea bycle disorder in C3H-H-2^0 mice with juvenile steatosis of viscera." FEB 260:119-121, 1990.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masahiro Kikuchi: "Enzymatic diagnosis of 3-Hydroxy-3-methylglutaryl CoA lyase deficiency with hyghperformance liquid chromatography." Clinica. Chimica. Acta.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] M. Yoshino: "Ornithine transcarbamylase deficiency in male adolescence and adulthood." Enzyme.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Keiko Kobayashi: "Heterogeneity of mutations in argininosuccinate synthetase gausing human citrullinemia." JBC.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] I. Matsuda: "Retrospective survey of urea cycle disorders. Part 1: Clinical and laboratory observations of thirty-two male Japanese patients with ornithine transcarbamylase."

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akira Hata: "A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency."

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yougo Haraguchi: "Molecular basis of argininemia: identification of two discrete grame-shift deletions in the liver-type arginase gene."

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Masahiko Kikuchi: "Assay of methylmalonyl CoA mutase with hugh-performance liquid chromatography." Clinica Chimica Acta. 184. 307-314 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Yasushi Isashiki: "Identification of essential argimine residue(s) for Mg-ATP binding of human argininosuccinate synthetase." Protein Seq Data Anal. 2. 283-287 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] J.Morita: "Persistent hyperkalaemia in bitamin B_<12> unresponsive methylmalonic acidaemia." J.Inher.Metab.Dis.12. 89-93 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Kuniaki Narisawa: "3-Methylglutaconyl-CoA hydratase,3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl COA lyase deficiencies:a coupled enzyme assay useful for their detection." Clinica Chimica Acta. 184. 57-64 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Masayoshi Nagao: "Neonatal hyperammonemia associated with carnitine deficiency." Tohoku J.Exp.Med.158. 317-323 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Tadashi Matsubasa: "Structure of the rat argininosucciate lyase gene:Close similarity ro chicken δ-crystallin genes." Proc.Natal.Acad.Sci.USA. 86. 592-596 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] J.Morita: "Persistent hyperkalaemia in vitamin B_<12> unresponsive methlmalonic acidaemia." J.Inher.Metab.Dis.12. 89-93 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Akira Hata: "Ornithine transcarbamylase deficiency resulting from a C- to T substitution in exon 5 of the ornithine transcarbamylase gene." Am.J.Hum.Genet.45. 123-127 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Akira Hata: "Study of a female patient with ornithine transcarbamylase deficiency:Detection of a nonsense mutation." J.Inher.Metab.Dis.12. 347-350 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] J.Morita: "Persistent hyperkalaemia in vitamin B_<12> unresponsive methylmalonic acidaemia." J.Inher.Metab.Dis.12. 89-93 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Ichiro Matsuda: "Structure of the ornithine transcarmylase(OTC)gene and DNA diagnosis of OTC deficiency." Clinica Chimica Acta. 185. 283-290 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Masayoshi Nagao: "Secondary carnitine deficiency in the newborn period in twins of a mother with partial ornithine transcarbamylase deficiency." J.Pediatrics. 115. 611-614 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Makoto Yoshino: "Ornithine transcarbamylase deficiency in male adolescence and adulthood." Enzyme.

    • Related Report
      1989 Annual Research Report
  • [Publications] Ichiro Matsuda: "Retrospective survey of urea disorders.Part 1:Clinical and laboratory observations of thiety-two male Japanese patients with ornithine transcarbamylase(OTC)." Am.J.Med,Genet.

    • Related Report
      1989 Annual Research Report
  • [Publications] Masahiko Kikuchi: "Enzymatic deagnosis of 3-hydroxy-methylglutaryl CoA lyase deficiency with high-performance liquid chromatography."

    • Related Report
      1989 Annual Research Report
  • [Publications] 佐伯武頼: "成人型シトルリン血症の特異性" 肝臓病学の進歩. 15. 17-24 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] 羽田明: "オルニチントランスカルバミラ-ゼ欠損症" 日本臨牀. 47. 386-392 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] S.Nakamura,;Y.Kondo,;T.Ogata,;K.Iribe,;Y.Kudo,;T.Ikeda,;I.Matsuda.: Acta Paediatr Jpn. 30. 692-695 (1988)

    • Related Report
      1988 Annual Research Report
  • [Publications] Y.Ohtani,;K.Ohtangai,;S.Yamanoto,;I.Matsuda.: The Journal of Pediatrics. 112. 409-414 (1988)

    • Related Report
      1988 Annual Research Report
  • [Publications] I.Matsuda,;A.Hata,;T.Matsuura,;T.Tsuzuki,;K.Shimada.: Clin Chim Acta.

    • Related Report
      1988 Annual Research Report
  • [Publications] A.Hata,;C.Setoyama,;K.Shimada,;E.Takeda,;Y.Kuroda,;I.Akaboshi,;I.Matsuda.: Human Genetics.

    • Related Report
      1988 Annual Research Report
  • [Publications] J.Morita,;Y.Ito,;M.Yoshino,;Y.Koga,;S.Yano,;I.Yoshida,;F.Yamashita.: J Inher Metab Dis. 11. (1988)

    • Related Report
      1988 Annual Research Report
  • [Publications] T.Matsumoto,;T.Kondoh,;M.Yoshimoto,;K.Fujieda,;N.Matsuura,;I.Matsuda,;T.Miike,;K.Yano,;A.Okuno,;Y.Aoki,;I.Murano,;S.Toyota,;S.Ohnishi,;N.Niikawa.: American Journal of Medical Genetics. 31. 603-616 (1988)

    • Related Report
      1988 Annual Research Report
  • [Publications] T.Matsumoto,;T.Kondoh,;T.Baba,;M.Yoshimoto,;N.Niikawa,;Y.Tsuji.: Acta Paediatrica Japonica.

    • Related Report
      1988 Annual Research Report
  • [Publications] T.Matsumoto,;T.Kondoh,;T.Kamei,;M.Yoshimoto,;Y.Tsuji,;K.Suzumori,;N.Iwatani,;N.Niikawa.: European Journal of Pediatrics.

    • Related Report
      1988 Annual Research Report
  • [Publications] T.Kamei,;J.Hamabe,;T.Matsumoto,;K.Abe,;N.Harada,;S.Ishikiriyama,;T.Hasegawa,;K.Miyazaki,;S.Mizuno,;K.Narahara,;S.Yukizane,;N.Niikawa.: Japanese Journal of Human Genetics.

    • Related Report
      1988 Annual Research Report
  • [Publications] Haraguchi Y,et al: Proc Natl Acad Sci. 84. 412-415 (1987)

    • Related Report
      1987 Annual Research Report
  • [Publications] Kawamoto S,et al: J Biol Chem. 262. 6280-6283 (1987)

    • Related Report
      1987 Annual Research Report
  • [Publications] Mori M,et al: New Approach to Genetic Diseases(Academic Press). 212-222 (1987)

    • Related Report
      1987 Annual Research Report
  • [Publications] Mori M,et al: Enzyme. 38. 220-226 (1987)

    • Related Report
      1987 Annual Research Report
  • [Publications] Matsuda I,et al: Enzyme. 38. 251-255 (1987)

    • Related Report
      1987 Annual Research Report
  • [Publications] Matsuda I,et al: Acta Paediatr Jpn. 29. 505-509 (1987)

    • Related Report
      1987 Annual Research Report
  • [Publications] Hata A,et al: J Biochem. 103. 302-308 (1988)

    • Related Report
      1987 Annual Research Report
  • [Publications] Amaya Y,et al: J Biochem. 103. 177-181 (1988)

    • Related Report
      1987 Annual Research Report
  • [Publications] Ohtani Y,et al: J Pediatr.

    • Related Report
      1987 Annual Research Report
  • [Publications] Tatsuno M,et al: Clin chem Enz Comm.

    • Related Report
      1987 Annual Research Report

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Published: 1987-04-01   Modified: 2016-04-21  

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