Saheki T - Search Results

1

Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase.

Ruitenbeek W, Kobayashi K, Iijima M, Smeitink JA, Engelke UF, De Abreu RA, Kwast HT, Saheki T, Boelen CA, De Jong JG, Wevers RA. Ruitenbeek W, et al. Among authors: saheki t. Ann Clin Biochem. 2003 Jan;40(Pt 1):102-7. doi: 10.1258/000456303321016259. Ann Clin Biochem. 2003. PMID: 12542919

2

[Argininosuccinate synthetase deficiency].

Kobayashi K, Saheki T. Kobayashi K, et al. Among authors: saheki t. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):175-8. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590020 Review. Japanese. No abstract available.

3

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD).

Saheki T, Kobayashi K. Saheki T, et al. J Hum Genet. 2002;47(7):333-41. doi: 10.1007/s100380200046. J Hum Genet. 2002. PMID: 12111366 Review.

4

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

Mutoh K, Kurokawa K, Kobayashi K, Saheki T. Mutoh K, et al. Among authors: saheki t. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S343-7. doi: 10.1007/s10545-008-0914-x. Epub 2008 Oct 29. J Inherit Metab Dis. 2008. PMID: 18958581

5

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T. Gao HZ, et al. Among authors: saheki t. Hum Mutat. 2003 Jul;22(1):24-34. doi: 10.1002/humu.10230. Hum Mutat. 2003. PMID: 12815590

6

Cirrhosis in an infant heterozygous for classical citrullinaemia.

Ezgü FS, Tümer L, Dalgiç B, Hasanoĝlu A, Kobayashi K, Saheki T. Ezgü FS, et al. Among authors: saheki t. Acta Paediatr. 2005 Dec;94(12):1849-51. doi: 10.1111/j.1651-2227.2005.tb01868.x. Acta Paediatr. 2005. PMID: 16421053

7

A case of citrullinemia with abnormal messenger RNA for argininosuccinate synthetase.

Nukada O, Uchiyama C, Ubuka S, Yoda T, Kobayashi K, Ichiki H, Saheki T. Nukada O, et al. Among authors: saheki t. Acta Paediatr Jpn. 1991 Oct;33(5):672-7. doi: 10.1111/j.1442-200x.1991.tb01885.x. Acta Paediatr Jpn. 1991. PMID: 1799125

8

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T. Kobayashi K, et al. Among authors: saheki t. Nat Genet. 1999 Jun;22(2):159-63. doi: 10.1038/9667. Nat Genet. 1999. PMID: 10369257

9

[Molecular basis of citrin deficiency].

Kobayashi K, Saheki T. Kobayashi K, et al. Among authors: saheki t. Seikagaku. 2004 Dec;76(12):1543-59. Seikagaku. 2004. PMID: 15675368 Review. Japanese. No abstract available.

10

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

Sinasac DS, Moriyama M, Jalil MA, Begum L, Li MX, Iijima M, Horiuchi M, Robinson BH, Kobayashi K, Saheki T, Tsui LC. Sinasac DS, et al. Among authors: saheki t. Mol Cell Biol. 2004 Jan;24(2):527-36. doi: 10.1128/MCB.24.2.527-536.2004. Mol Cell Biol. 2004. PMID: 14701727 Free PMC article.

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