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Results: 1 to 20 of 39

PubMed Links for Books (Select 2408534)

1.

Requirement of argininosuccinate lyase for systemic nitric oxide production.

Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B.

Nat Med. 2011 Nov 13;17(12):1619-26. doi: 10.1038/nm.2544.

2.

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.

Mercimek-Mahmutoglu S, Moeslinger D, Häberle J, Engel K, Herle M, Strobl MW, Scheibenreiter S, Muehl A, Stöckler-Ipsiroglu S.

Mol Genet Metab. 2010 May;100(1):24-8. doi: 10.1016/j.ymgme.2010.01.013. Epub 2010 Feb 4.

PMID:
20236848
3.

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.

Trevisson E, Burlina A, Doimo M, Pertegato V, Casarin A, Cesaro L, Navas P, Basso G, Sartori G, Salviati L.

J Biol Chem. 2009 Oct 16;284(42):28926-34. doi: 10.1074/jbc.M109.050195. Epub 2009 Aug 24.

4.

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.

Ficicioglu C, Mandell R, Shih VE.

Mol Genet Metab. 2009 Nov;98(3):273-7. doi: 10.1016/j.ymgme.2009.06.011. Epub 2009 Jun 25.

5.

Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?

Brunetti-Pierri N, Erez A, Shchelochkov O, Craigen W, Lee B.

Mol Genet Metab. 2009 Sep-Oct;98(1-2):195-7. doi: 10.1016/j.ymgme.2009.06.006. Epub 2009 Jun 13.

6.

Hereditary urea cycle diseases in Finland.

Keskinen P, Siitonen A, Salo M.

Acta Paediatr. 2008 Oct;97(10):1412-9. doi: 10.1111/j.1651-2227.2008.00923.x. Epub 2008 Jul 9.

PMID:
18616627
7.

Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network.

Mol Genet Metab. 2008 Aug;94(4):397-402. doi: 10.1016/j.ymgme.2008.05.004. Epub 2008 Jun 17.

8.

Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up.

Marble M, McGoey RR, Mannick E, Keats B, Ng SS, Deputy S, Gereighty H, Schmidt-Sommerfeld E.

J Pediatr Gastroenterol Nutr. 2008 Apr;46(4):453-6. doi: 10.1097/MPG.0b013e3180ca8720. No abstract available. Erratum in: J Pediatr Gastroenterol Nutr. 2008 Jul;47(1):113..

PMID:
18367960
9.

Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome.

Newnham T, Hardikar W, Allen K, Wellard RM, Hamilton C, Angus P, Jones R, Boneh A.

Liver Transpl. 2008 Jan;14(1):41-5.

10.

Orotic acid excretion and arginine metabolism.

Brosnan ME, Brosnan JT.

J Nutr. 2007 Jun;137(6 Suppl 2):1656S-1661S. Review.

11.

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB.

Hum Mutat. 2007 Jul;28(7):694-702.

PMID:
17326097
12.

Trichorrhexis nodosa secondary to argininosuccinicaciduria.

Fichtel JC, Richards JA, Davis LS.

Pediatr Dermatol. 2007 Jan-Feb;24(1):25-7.

PMID:
17300644
13.

Inefficient spin trapping of superoxide in the presence of nitric-oxide: implications for studies on nitric-oxide synthase uncoupling.

Pignitter M, Gorren AC, Nedeianu S, Schmidt K, Mayer B.

Free Radic Biol Med. 2006 Aug 1;41(3):455-63. Epub 2006 Apr 22.

PMID:
16843826
14.

Successful liver transplantation for argininosuccinate lyase deficiency (ASLD).

Robberecht E, Maesen S, Jonckheere A, Van Biervliet S, Carton D.

J Inherit Metab Dis. 2006 Feb;29(1):184-5.

PMID:
16601888
15.

Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.

Kleijer WJ, Garritsen VH, van der Sterre ML, Berning C, Häberle J, Huijmans JG.

Prenat Diagn. 2006 Mar;26(3):242-7.

PMID:
16475226
16.

Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.

Al-Sayed M, Alahmed S, Alsmadi O, Khalil H, Rashed MS, Imtiaz F, Meyer BF.

J Inherit Metab Dis. 2005;28(6):877-83.

PMID:
16435180
17.

Arginine metabolic enzymes, nitric oxide and infection.

Mori M, Gotoh T.

J Nutr. 2004 Oct;134(10 Suppl):2820S-2825S; discussion 2853S. Review.

18.

Genetic approach to prenatal diagnosis in urea cycle defects.

Häberle J, Koch HG.

Prenat Diagn. 2004 May;24(5):378-83.

PMID:
15164414
20.

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG.

J Inherit Metab Dis. 2002 Sep;25(5):399-410.

PMID:
12408190
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