Kobayashi K - Search Results

1

Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.

Sinasac DS, Crackower MA, Lee JR, Kobayashi K, Saheki T, Scherer SW, Tsui LC. Sinasac DS, et al. Among authors: kobayashi k. Genomics. 1999 Dec 1;62(2):289-92. doi: 10.1006/geno.1999.6006. Genomics. 1999. PMID: 10610724

2

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. Nat Genet. 1999 Jun;22(2):159-63. doi: 10.1038/9667. Nat Genet. 1999. PMID: 10369257

3

Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia.

Kobayashi K, Nakata M, Terazono H, Shinsato T, Saheki T. Kobayashi K, et al. FEBS Lett. 1995 Sep 18;372(1):69-73. doi: 10.1016/0014-5793(95)00948-9. FEBS Lett. 1995. PMID: 7556646 Free article.

4

Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia.

Kobayashi K, Horiuchi M, Saheki T. Kobayashi K, et al. Hepatology. 1997 May;25(5):1160-5. doi: 10.1002/hep.510250519. Hepatology. 1997. PMID: 9141434

5

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

Yasuda T, Yamaguchi N, Kobayashi K, Nishi I, Horinouchi H, Jalil MA, Li MX, Ushikai M, Iijima M, Kondo I, Saheki T. Yasuda T, et al. Among authors: kobayashi k. Hum Genet. 2000 Dec;107(6):537-45. doi: 10.1007/s004390000430. Hum Genet. 2000. PMID: 11153906

6

Neonatal presentation of adult-onset type II citrullinemia.

Ohura T, Kobayashi K, Tazawa Y, Nishi I, Abukawa D, Sakamoto O, Iinuma K, Saheki T. Ohura T, et al. Among authors: kobayashi k. Hum Genet. 2001 Feb;108(2):87-90. doi: 10.1007/s004390000448. Hum Genet. 2001. PMID: 11281457

7

[Citrullinemia].

Saheki T, Kobayashi K, Ichiki H. Saheki T, et al. Among authors: kobayashi k. Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):505-9. Tanpakushitsu Kakusan Koso. 1988. PMID: 3270855 Japanese. No abstract available.

8

Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels: mutations in the SLC25A13 gene.

Maruyama H, Ogawa M, Nishio T, Kobayashi K, Saheki T, Sunohara N. Maruyama H, et al. Among authors: kobayashi k. J Neurol Sci. 2001 Dec 15;193(1):63. doi: 10.1016/s0022-510x(01)00646-3. J Neurol Sci. 2001. PMID: 11718753 No abstract available.

9

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

Kobayashi K, Shaheen N, Kumashiro R, Tanikawa K, O'Brien WE, Beaudet AL, Saheki T. Kobayashi K, et al. Am J Hum Genet. 1993 Nov;53(5):1024-30. Am J Hum Genet. 1993. PMID: 8105687 Free PMC article.

10

Mutations and DNA diagnoses of classical citrullinemia.

Kakinoki H, Kobayashi K, Terazono H, Nagata Y, Saheki T. Kakinoki H, et al. Among authors: kobayashi k. Hum Mutat. 1997;9(3):250-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<250::AID-HUMU6>3.0.CO;2-B. Hum Mutat. 1997. PMID: 9090528

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