These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship. van der Heiden C; Gerards LJ; van Biervliet JP; Desplanque J; de Bree PK; van Sprang FJ; Wadman SK Helv Paediatr Acta; 1976 Dec; 31(4-5):407-17. PubMed ID: 1017984 [No Abstract] [Full Text] [Related]
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. PubMed ID: 11486903 [TBL] [Abstract][Full Text] [Related]
6. The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. Wiwattanadittakul N; Prust M; Gaillard WD; Massaro A; Vezina G; Tsuchida TN; Gropman AL Mol Genet Metab; 2018 Nov; 125(3):235-240. PubMed ID: 30197275 [TBL] [Abstract][Full Text] [Related]
7. Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry: implications for the diagnosis of argininosuccinic aciduria. De Biase I; Liu A; Yuzyuk T; Longo N; Pasquali M Clin Chim Acta; 2015 Mar; 442():73-4. PubMed ID: 25598409 [No Abstract] [Full Text] [Related]
8. Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency. Stéphenne X; Najimi M; Sibille C; Nassogne MC; Smets F; Sokal EM Gastroenterology; 2006 Apr; 130(4):1317-23. PubMed ID: 16618422 [TBL] [Abstract][Full Text] [Related]
9. Argininosuccinic aciduria: long-term treatment with arginine. Parsons HG; Scott RB; Pinto A; Carter RJ; Snyder FF J Inherit Metab Dis; 1987; 10(2):152-61. PubMed ID: 3116334 [TBL] [Abstract][Full Text] [Related]
10. Urea biosynthesis II. Normal and abnormal regulation. Shambaugh GE Am J Clin Nutr; 1978 Jan; 31(1):126-33. PubMed ID: 339704 [No Abstract] [Full Text] [Related]
11. Inborn errors of metabolism in acutely sick children. Dhareshwar SS; Ambani LM; Suchak RH; Danthi V Indian J Med Res; 1982 Nov; 76():716-22. PubMed ID: 7166367 [No Abstract] [Full Text] [Related]
12. Determination of amino acid profile for argininosuccinic aciduria disorder using High-Performance Liquid Chromatography with fluorescence detection. Salmanizadeh H; Sahi N Acta Biochim Pol; 2020 Sep; 67(3):347-351. PubMed ID: 32931185 [TBL] [Abstract][Full Text] [Related]
13. Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene. Linnebank M; Homberger A; Rapp B; Winter C; Marquardt T; Harms E; Koch HG J Inherit Metab Dis; 2000 Jun; 23(4):308-12. PubMed ID: 10896281 [No Abstract] [Full Text] [Related]
14. Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): experience with four independent CDT analysis methods--misleading results given by the %CDT TIA assay. Arndt T; Gressner A; Herwig J; Meier U; Sewell AC Clin Chim Acta; 2006 Nov; 373(1-2):117-20. PubMed ID: 16808909 [TBL] [Abstract][Full Text] [Related]