PubMed (OMIM) for id: 1648491

Year	Number of Results
1963	1
1967	2
1971	2
1972	1
1973	1
1975	1
1976	2
1977	3
1981	2
1982	4
1984	2
1985	2
1986	4
1987	1
1988	1
1989	3
1990	3
1991	1
1992	2
1994	1
1995	1
2001	2
2002	1
2003	1
2024	0

1

MCMURRAY WC, RATHBUN JC, MOHYUDDIN F, KOEGLER SJ. MCMURRAY WC, et al. Pediatrics. 1963 Sep;32:347-57. Pediatrics. 1963. PMID: 14063512 No abstract available.

2

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. Hum Mutat. 2003 Jul;22(1):24-34. doi: 10.1002/humu.10230. Hum Mutat. 2003. PMID: 12815590

3

Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.

Häberle J, Pauli S, Linnebank M, Kleijer WJ, Bakker HD, Wanders RJ, Harms E, Koch HG. Häberle J, et al. Hum Genet. 2002 Apr;110(4):327-33. doi: 10.1007/s00439-002-0686-6. Epub 2002 Mar 1. Hum Genet. 2002. PMID: 11941481

4

Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.

Wilson CJ, Lee PJ, Leonard JV. Wilson CJ, et al. J Inherit Metab Dis. 2001 Dec;24(7):691-5. doi: 10.1023/a:1012995701589. J Inherit Metab Dis. 2001. PMID: 11804205

5

A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia.

Li CM, Chao HK, Liu YF, Su TS. Li CM, et al. Eur J Hum Genet. 2001 Sep;9(9):685-9. doi: 10.1038/sj.ejhg.5200695. Eur J Hum Genet. 2001. PMID: 11571557

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

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

8

Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.

Cathelineau L, Pham Dinh D, Briand P, Kamoun P. Cathelineau L, et al. Hum Genet. 1981;57(3):282-4. doi: 10.1007/BF00278945. Hum Genet. 1981. PMID: 7250970

9

Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts.

Su TS, Bock HG, Beaudet AL, O'Brien WE. Su TS, et al. J Clin Invest. 1982 Dec;70(6):1334-9. doi: 10.1172/jci110736. J Clin Invest. 1982. PMID: 7174798 Free PMC article.

10

Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase.

Daiger SP, Wildin RS, Su TS. Daiger SP, et al. Nature. 1982 Aug 12;298(5875):682-4. doi: 10.1038/298682a0. Nature. 1982. PMID: 7099264 No abstract available.

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