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Items: 1 to 20 of 112

1.

Animal model of human disease. Citrullinemia (argininosuccinate synthetase deficiency).

Harper PA, Healy PJ, Dennis JA.

Am J Pathol. 1989 Dec;135(6):1213-5. No abstract available.

2.

Molecular definition of bovine argininosuccinate synthetase deficiency.

Dennis JA, Healy PJ, Beaudet AL, O'Brien WE.

Proc Natl Acad Sci U S A. 1989 Oct;86(20):7947-51.

3.

Ultrastructural findings in citrullinaemia in Holstein-Friesian calves.

Harper PA, Healy PJ, Dennis JA, Martin AB.

Acta Neuropathol. 1988;76(3):306-10.

PMID:
3213435
4.

Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene.

Patejunas G, Bradley A, Beaudet AL, O'Brien WE.

Somat Cell Mol Genet. 1994 Jan;20(1):55-60.

PMID:
8197477
5.

Citrullinaemia as a cause of neurological disease in neonatal Friesian calves.

Harper PA, Healy PJ, Dennis JA, O'Brien JJ, Rayward DH.

Aust Vet J. 1986 Nov;63(11):378-9. No abstract available.

PMID:
3827779
6.

Increased urinary excretion of argininosuccinate in type II citrullinemia.

Saheki T, Kobayashi K, Inoue I, Matuo S, Hagihara S, Noda T.

Clin Chim Acta. 1987 Dec;170(2-3):297-304.

PMID:
3436063
7.

[A case of citrullinemia with cluster type distribution of argininosuccinate synthetase in the liver].

Ikeda M, Orimo S, Kurosawa T, Arai M, Hiyamuta E.

Rinsho Shinkeigaku. 1987 Jul;27(7):931-5. Japanese. No abstract available.

PMID:
3665284
8.

PCR screening for carriers of hereditary citrullinaemia in Danish Holstein-Friesian bulls.

Thomsen PD, Nielsen JS.

Acta Vet Scand. 1991;32(2):279-82. No abstract available.

PMID:
1803940
9.

Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia.

Lee B, Dennis JA, Healy PJ, Mull B, Pastore L, Yu H, Aguilar-Cordova E, O'Brien W, Reeds P, Beaudet AL.

Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):3981-6.

10.

Additional mutations in argininosuccinate synthetase causing citrullinemia.

Kobayashi K, Rosenbloom C, Beaudet AL, O'Brien WE.

Mol Biol Med. 1991 Feb;8(1):95-100.

PMID:
1943692
11.

Citrullinemia, argininosuccinate synthetase deficiency. Repository identification No. GM-1044.

Spector E, Kennaway N, Punnett H, Greene AE, Coriell LL.

Cytogenet Cell Genet. 1977;19(1):51-52. No abstract available.

PMID:
891263
12.

Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia.

Jacoby LB, Shih VE, Struckmeyer C, Niermeijer MF, Boué J.

Clin Chim Acta. 1981 Oct 8;116(1):1-7.

PMID:
7318168
13.

An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia.

Osafune K, Ichikawa K, Yasui T, Sekikawa A, Takeoka H, Kanatsu K, Kohigashi K, Koshiyama H.

Intern Med. 1999 Jul;38(7):590-6.

14.

Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.

Saheki T, Ueda A, Hosoya M, Kusumi K, Takada S, Tsuda M, Katsunuma T.

Clin Chim Acta. 1981 Feb 5;109(3):325-35.

PMID:
6784969
15.

Citrullinemia: enzymatic evidence for genetic heterogeneity.

Kennaway NG, Harwood PJ, Ramberg DA, Koler RD, Buist NR.

Pediatr Res. 1975 Jun;9(6):554-8.

PMID:
1161343
16.

The human argininosuccinate synthetase locus and citrullinemia.

Beaudet AL, O'Brien WE, Bock HG, Freytag SO, Su TS.

Adv Hum Genet. 1986;15:161-96, 291-2. Review. No abstract available.

PMID:
3513483
17.

[A case of argininosuccinate synthetase (ASS) deficiency diagnosed by the measurement of ASS with the liver biopsy specimen].

Mori S, Aoyagi Y, Ohno T, Watanabe T, Nomot M, Kamimura T, Ichida F, Muramatsu K, Itoh N.

Nihon Naika Gakkai Zasshi. 1989 Sep;78(9):1339-43. Japanese. No abstract available.

PMID:
2592835
18.

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

Kobayashi K, Shaheen N, Terazono H, Saheki T.

Am J Hum Genet. 1995 Jan;56(1):356. No abstract available.

20.

Evaluation of gene therapy for citrullinaemia using murine and bovine models.

Patejunas G, Lee B, Dennis JA, Healy PJ, Reeds PJ, Yu H, Frazer M, Mull B, Warman AW, Beaudet AL, O'Brien WE.

J Inherit Metab Dis. 1998;21 Suppl 1:138-50.

PMID:
9686351
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