273 related articles for article (PubMed ID: 12408190)
1. 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. PubMed ID: 12408190
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 16475226
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 8843999
[TBL] [Abstract][Full Text] [Related]
4. Improved standards for prenatal diagnosis of citrullinemia.
Miller MJ; Soler-Alfonso CR; Grund JE; Fang P; Sun Q; Elsea SH; Sutton VR
Mol Genet Metab; 2014 Jul; 112(3):205-9. PubMed ID: 24889030
[TBL] [Abstract][Full Text] [Related]
5. Argininosuccinic aciduria: prenatal studies in a family at risk.
Fleisher LD; Rassin DK; Desnick RJ; Salwen HR; Rogers P; Bean M; Gaull GE
Am J Hum Genet; 1979 Jul; 31(4):439-45. PubMed ID: 484552
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 6777600
[TBL] [Abstract][Full Text] [Related]
7. Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
Engel K; Vuissoz JM; Eggimann S; Groux M; Berning C; Hu L; Klaus V; Moeslinger D; Mercimek-Mahmutoglu S; Stöckler S; Wermuth B; Häberle J; Nuoffer JM
J Inherit Metab Dis; 2012 Jan; 35(1):133-40. PubMed ID: 21667091
[TBL] [Abstract][Full Text] [Related]
8. Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria.
Perry TL; Wirtz ML; Kennaway NG; Hsia YE; Atienza FC; Uemura HS
Clin Chim Acta; 1980 Aug; 105(2):257-67. PubMed ID: 7398094
[TBL] [Abstract][Full Text] [Related]
9. Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria.
Saheki T; Kobayashi K; Ichiki H; Matuo S; Tatsuno M; Imamura Y; Inoue I; Noda T; Hagihara S
Enzyme; 1987; 38(1-4):227-32. PubMed ID: 3440446
[TBL] [Abstract][Full Text] [Related]
10. Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Cathelineau L; Pham Dinh D; Briand P; Kamoun P
Hum Genet; 1981; 57(3):282-4. PubMed ID: 7250970
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 3436063
[TBL] [Abstract][Full Text] [Related]
12. Metabolic cooperation between argininosuccinate synthetase and argininosuccinate lyase deficient human fibroblasts.
Davidson JS; Baumgarten IM; Harley EH
Exp Cell Res; 1984 Feb; 150(2):367-78. PubMed ID: 6692857
[TBL] [Abstract][Full Text] [Related]
13. Argininosuccinate lyase deficiency.
Nagamani SC; Erez A; Lee B
Genet Med; 2012 May; 14(5):501-7. PubMed ID: 22241104
[TBL] [Abstract][Full Text] [Related]
14. [Citrullinemia and argininosuccinic aciduria].
Kawamura M
Nihon Rinsho; 1978 May; Suppl():1354-5. PubMed ID: 691352
[No Abstract] [Full Text] [Related]
15. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
Erez A; Nagamani SC; Lee B
Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):45-53. PubMed ID: 21312326
[TBL] [Abstract][Full Text] [Related]
16. Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.
McInnes RR; Shih V; Chilton S
Proc Natl Acad Sci U S A; 1984 Jul; 81(14):4480-4. PubMed ID: 6589607
[TBL] [Abstract][Full Text] [Related]
17. Mild variant of argininosuccinic aciduria.
Schutgens RB; Beemer FA; Tegelaers WH; de Groot WP
J Inherit Metab Dis; 1980; 2(1):13-4. PubMed ID: 6796754
[TBL] [Abstract][Full Text] [Related]
18. Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Cathelineau L; Pham Dinh D; Briand P; Kamoun P
Adv Exp Med Biol; 1982; 153():101-10. PubMed ID: 7164890
[No Abstract] [Full Text] [Related]
19. A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
Tanaka T; Nagao M; Mori T; Tsutsumi H
Tohoku J Exp Med; 2002 Oct; 198(2):119-24. PubMed ID: 12512996
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
