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Literature DB >> 3306877

Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.

T Saheki, K Kobayashi, I Inoue.

Abstract

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 1987 PMID： 3306877 DOI： 10.1007/BFb0034071

Source DB: PubMed Journal: Rev Physiol Biochem Pharmacol ISSN： 0303-4240 Impact factor: 5.545

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22 in total

1. Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia.

Authors: Bum Soo Kim; Sun Hyung Joo; Suk Hwan Lee; Jung Il Lee; Hyun Cheol Kim; Deok Ho Nam; Ho Chul Park
Journal: J Korean Surg Soc Date: 2011-06-17

2. 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

3. CT findings in the infantile form of citrullinemia.

Authors: Sait Albayram; Kieran J Murphy; Philippe Gailloud; Abhay Moghekar; James A Brunberg
Journal: AJNR Am J Neuroradiol Date: 2002-02 Impact factor: 3.825

4. Neonatal screening for citrullinaemia.

Authors: Johannes Sander; Nils Janzen; Stefanie Sander; Ulrike Steuerwald; Anibh M Das; Sabine Scholl; Friedrich K Trefz; Hans-Georg Koch; Johannes Häberle; Herbert Korall; Iris Marquardt; Christoph Korenke
Journal: Eur J Pediatr Date: 2003-04-08 Impact factor: 3.183

5. 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

6. Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate.

Authors: K Mutoh; K Kurokawa; K Kobayashi; T Saheki
Journal: J Inherit Metab Dis Date: 2008-10-29 Impact factor: 4.982

Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.

1. Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia.

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

3. CT findings in the infantile form of citrullinemia.

4. Neonatal screening for citrullinaemia.

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

6. Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate.

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

8. Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.

9. Neonatal citrullinemia: comparison of conventional MR, diffusion-weighted, and diffusion tensor findings.

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