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Literature DB >> 3939592

Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan.

T Saheki, K Nakano, K Kobayashi, Y Imamura, Y Itakura, M Sase, S Hagihara, S Matuo.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1985 PMID： 3939592 DOI： 10.1007/bf01819306

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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7 in total

1. Cell-free translation and thyroxine induction of carbamyl phosphate synthetase I messenger RNA in tadpole liver.

Authors: M Mori; S M Morris; P P Cohen
Journal: Proc Natl Acad Sci U S A Date: 1979-07 Impact factor: 11.205

2. Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose.

Authors: P S Thomas
Journal: Proc Natl Acad Sci U S A Date: 1980-09 Impact factor: 11.205

3. Differential gene expression in the gastrula of Xenopus laevis.

Authors: T D Sargent; I B Dawid
Journal: Science Date: 1983-10-14 Impact factor: 47.728

4. Cell-free translation of carbamyl phosphate synthetase I and ornithine transcarbamylase messenger RNAs of rat liver. Effect of dietary protein and fasting on translatable mRNA levels.

Authors: M Mori; S Miura; M Tatibana; P P Cohen
Journal: J Biol Chem Date: 1981-04-25 Impact factor: 5.157

5. Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia.

Authors: M Sase; K Kobayashi; Y Imamura; T Saheki; K Nakano; S Miura; M Mori
Journal: Hum Genet Date: 1985 Impact factor: 4.132

6. Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients.

Authors: T Saheki; A Ueda; K Iizima; N Yamada; K Kobayashi; K Takahashi; T Katsunuma
Journal: Clin Chim Acta Date: 1982-01-05 Impact factor: 3.786

7. Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.

Authors: T Saheki; A Ueda; M Hosoya; K Kusumi; S Takada; M Tsuda; T Katsunuma
Journal: Clin Chim Acta Date: 1981-02-05 Impact factor: 3.786

7 in total

10 in total

1. Molecular definition of bovine argininosuccinate synthetase deficiency.

Authors: J A Dennis; P J Healy; A L Beaudet; W E O'Brien
Journal: Proc Natl Acad Sci U S A Date: 1989-10 Impact factor: 11.205

2. Metabolism of citrulline in man.

Authors: D Rabier; P Kamoun
Journal: Amino Acids Date: 1995-12 Impact factor: 3.520

3. Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.

Authors: T Yasuda; N Yamaguchi; K Kobayashi; I Nishi; H Horinouchi; M A Jalil; M X Li; M Ushikai; M Iijima; I Kondo; T Saheki
Journal: Hum Genet Date: 2000-12 Impact factor: 4.132

Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan.

1. Cell-free translation and thyroxine induction of carbamyl phosphate synthetase I messenger RNA in tadpole liver.

2. Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose.

3. Differential gene expression in the gastrula of Xenopus laevis.

4. Cell-free translation of carbamyl phosphate synthetase I and ornithine transcarbamylase messenger RNAs of rat liver. Effect of dietary protein and fasting on translatable mRNA levels.

5. Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia.

6. Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients.

7. Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.

1. Molecular definition of bovine argininosuccinate synthetase deficiency.

2. Metabolism of citrulline in man.

3. Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.

4. Serum arginine level in neonatal citrullinaemia.

Review 5. Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.

6. Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.

7. Messenger RNA coding for argininosuccinate synthetase in citrullinemia.

8. Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.

Review 9. Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.

10. Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants.