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Items: 1 to 20 of 103

1.

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.

2.

Argininosuccinate lyase deficiency.

Nagamani SC, Erez A, Lee B.

Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5. Review.

3.

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
4.

Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.

Stadler S, Gempel K, Bieger I, Pontz BF, Gerbitz KD, Bauer MF, Hofmann S.

J Inherit Metab Dis. 2001 Jun;24(3):370-8.

PMID:
11486903
5.

Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.

Erez A, Nagamani SC, Lee B.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):45-53. doi: 10.1002/ajmg.c.30289. Epub 2011 Feb 10. Review.

6.

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
7.

Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.

Chen BC, Ngu LH, Zabedah MY.

Malays J Pathol. 2010 Dec;32(2):87-95.

8.

Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.

Hu L, Pandey AV, Eggimann S, Rüfenacht V, Möslinger D, Nuoffer JM, Häberle J.

J Biol Chem. 2013 Nov 29;288(48):34599-611. doi: 10.1074/jbc.M113.503128. Epub 2013 Oct 17.

9.

Urea cycle disorders in Thai infants: a report of 5 cases.

Wasant P, Srisomsap C, Liammongkolkul S, Svasti J.

J Med Assoc Thai. 2002 Aug;85 Suppl 2:S720-31.

PMID:
12403252
10.

Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.

Mandell R, Packman S, Laframboise R, Golbus MS, Schmidt K, Workman L, Saudubray JM, Shih VE.

Prenat Diagn. 1996 May;16(5):419-24.

PMID:
8843999
11.

Argininosuccinate Lyase Deficiency.

Nagamani SCS, Erez A, Lee B.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2011 Feb 3 [updated 2012 Feb 2].

12.

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.

Balmer C, Pandey AV, Rüfenacht V, Nuoffer JM, Fang P, Wong LJ, Häberle J.

Hum Mutat. 2014 Jan;35(1):27-35. doi: 10.1002/humu.22469. Epub 2013 Nov 25.

PMID:
24166829
13.

The incidence of urea cycle disorders.

Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml; Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-80. doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18.

14.

Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA).

Beck NM, Johnston JP, Lemke KS, Pogacar P, Phornphutkul C.

Med Health R I. 2011 May;94(5):121-3. No abstract available.

PMID:
21710918
15.
16.
17.

Prospective treatment of urea cycle disorders.

Maestri NE, Hauser ER, Bartholomew D, Brusilow SW.

J Pediatr. 1991 Dec;119(6):923-8.

PMID:
1720458
18.

[Argininosuccinate lyase deficiency].

Matsubasa T.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):179-81. Review. Japanese. No abstract available.

PMID:
9590021
19.

Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts.

González-Noriega A, Verduzco J, Prieto E, Velázquez A.

J Inherit Metab Dis. 1980;3(2):45-8.

PMID:
6777600
20.

Congenital hyperammonemic syndromes.

Shih VE.

Clin Perinatol. 1976 Mar;3(1):3-14.

PMID:
954343
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