Kobayashi K - Search Results

1

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.

2

Increased urinary excretion of argininosuccinate in type II citrullinemia.

Saheki T, Kobayashi K, Inoue I, Matuo S, Hagihara S, Noda T. Saheki T, et al. Among authors: kobayashi k. Clin Chim Acta. 1987 Dec;170(2-3):297-304. doi: 10.1016/0009-8981(87)90140-9. Clin Chim Acta. 1987. PMID: 3436063

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

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

Kobayashi K, Kakinoki H, Fukushige T, Shaheen N, Terazono H, Saheki T. Kobayashi K, et al. Hum Genet. 1995 Oct;96(4):454-63. doi: 10.1007/BF00191806. Hum Genet. 1995. PMID: 7557970

5

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

Kobayashi K, Shaheen N, Terazono H, Saheki T. Kobayashi K, et al. Am J Hum Genet. 1995 Jan;56(1):356. Am J Hum Genet. 1995. PMID: 7825601 Free PMC article. No abstract available.

6

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

Kobayashi K, Shaheen N, Terazono H, Saheki T. Kobayashi K, et al. Am J Hum Genet. 1994 Dec;55(6):1103-12. Am J Hum Genet. 1994. PMID: 7977368 Free PMC article.

7

Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.

Shaheen N, Kobayashi K, Terazono H, Fukushige T, Horiuchi M, Saheki T. Shaheen N, et al. Among authors: kobayashi k. Enzyme Protein. 1994-1995;48(5-6):251-64. doi: 10.1159/000474998. Enzyme Protein. 1994. PMID: 8792870

8

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

9

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

10

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

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