Literature DB >> 7164923

Enzymatic analysis of citrullinemia (12 cases) in Japan.

T Saheki, A Ueda, M Hosoya, M Sase, K Nakano, T Katsunuma.   

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Year:  1982        PMID： 7164923     DOI： 10.1007/978-1-4757-6903-6_9

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  8 in total

1.  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

2.  Adult-type citrullinemia.

Authors:  R Okeda; M Tanaka; Y Kawahara; J Tokushige; T Imai; K Kameya
Journal:  Acta Neuropathol       Date:  1989       Impact factor: 17.088

Review 3.  Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.

Authors:  Takeyori Saheki; Keiko Kobayashi; Mikio Iijima; Ikumi Nishi; Tomotsugu Yasuda; Naoki Yamaguchi; Hong Zhi Gao; Md Abdul Jalil; Laila Begum; Meng Xian Li
Journal:  Metab Brain Dis       Date:  2002-12       Impact factor: 3.584

4.  Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation.

Authors:  S Ikeda; M Yazaki; Y Takei; T Ikegami; Y Hashikura; S Kawasaki; M Iwai; K Kobayashi; T Saheki
Journal:  J Neurol Neurosurg Psychiatry       Date:  2001-11       Impact factor: 10.154

5.  A search for the primary abnormality in adult-onset type II citrullinemia.

Authors:  K Kobayashi; N Shaheen; R Kumashiro; K Tanikawa; W E O'Brien; A L Beaudet; T Saheki
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

6.  Effects of glucagon on urinary excretion of urea and on plasma ammonia level in argininosuccinate synthetase deficiency.

Authors:  S Tamura; S Kawata; K Fukuda; Y Inui; H Kakimoto; H Ishiguro; M Namba; N Kono; Y Matsuzawa
Journal:  J Gastroenterol       Date:  1994-02       Impact factor: 7.527

7.  Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.

Authors:  David S Sinasac; Mitsuaki Moriyama; M Abdul Jalil; Laila Begum; Meng Xian Li; Mikio Iijima; Masahisa Horiuchi; Brian H Robinson; Keiko Kobayashi; Takeyori Saheki; Lap-Chee Tsui
Journal:  Mol Cell Biol       Date:  2004-01       Impact factor: 4.272

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

Authors:  K Kobayashi; H Ichiki; T Saheki; M Tatsuno; C Uchiyama; O Nukada; T Yoda
Journal:  Hum Genet       Date:  1987-05       Impact factor: 4.132
  8 in total

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