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.
4. Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. Glick NR; Snodgrass PJ; Schafer IA Am J Hum Genet; 1976 Jan; 28(1):22-30. PubMed ID: 174426 [TBL] [Abstract][Full Text] [Related]
5. First case of argininosuccinic aciduria in Japan: clinical observations and treatment. Sakiyama T; Suzuki T; Owada M; Kitagawa T Adv Exp Med Biol; 1982; 153():95-100. PubMed ID: 7164926 [No Abstract] [Full Text] [Related]
6. 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]
7. A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders. Talbot HW; Sumlin AB; Naylor EW; Guthrie R Pediatrics; 1982 Oct; 70(4):526-31. PubMed ID: 7122151 [TBL] [Abstract][Full Text] [Related]
8. Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. Batshaw ML; Brusilow S; Waber L; Blom W; Brubakk AM; Burton BK; Cann HM; Kerr D; Mamunes P; Matalon R; Myerberg D; Schafer IA N Engl J Med; 1982 Jun; 306(23):1387-92. PubMed ID: 7078580 [TBL] [Abstract][Full Text] [Related]
9. Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy. Donn SM; Thoene JG J Inherit Metab Dis; 1985; 8(1):18-20. PubMed ID: 3921755 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria. Kobayashi K; Itakura Y; Saheki T; Nakano K; Sase M; Oyanagi K; Okamoto R; Mino M Clin Chim Acta; 1986 Aug; 159(1):59-67. PubMed ID: 3757266 [TBL] [Abstract][Full Text] [Related]
12. Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma. Batshaw ML; Walser M; Brusilow SW Pediatr Res; 1980 Dec; 14(12):1316-9. PubMed ID: 7208146 [TBL] [Abstract][Full Text] [Related]
13. ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS. TOMLINSON S; WESTALL RG Clin Sci; 1964 Apr; 26():261-9. PubMed ID: 14162426 [No Abstract] [Full Text] [Related]
14. [Screening of newborns for argininosuccinase deficiency. First experiences in Austria (author's transl)]. Schön R; Thalhammer O Monatsschr Kinderheilkd (1902); 1977 Aug; 125(8):774-6. PubMed ID: 904636 [TBL] [Abstract][Full Text] [Related]
15. [Pathological and biochemical studies on a neonatal case of argininosuccinic aciduria (author's transl)]. Farriaux JP; Dhondt JL; Formstecher P; Martin JJ; Pollitt RJ; Knit J; Lagrou A; Mardens Y; Fontaine G Acta Neurol Belg; 1976; 76(1):26-34. PubMed ID: 961372 [TBL] [Abstract][Full Text] [Related]
16. Therapy of urea cycle enzymopathies: three case studies. Batshaw ML; Painter MJ; Sproul GT; Schafer IA; Thomas GH; Brusilow S Johns Hopkins Med J; 1981 Jan; 148(1):34-40. PubMed ID: 7453005 [No Abstract] [Full Text] [Related]
17. [Argininosuccinic aciduria. Comparative studies and detection of carriers in 3 affected families]. Briones Godino P; Rodes Monegal M; Vilaseca Busca MA; Maya Victoria A; Lizárraga Vidaurreta I; Barbero Aguirre P; Pascual Castroviejo I An Esp Pediatr; 1988 Jan; 28(1):49-54. PubMed ID: 3279887 [TBL] [Abstract][Full Text] [Related]
18. New pathways of nitrogen excretion in inborn errors of urea synthesis. Brusilow SW; Valle DL; Batshaw M Lancet; 1979 Sep; 2(8140):452-4. PubMed ID: 89510 [TBL] [Abstract][Full Text] [Related]
19. Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study. Grisar T Adv Exp Med Biol; 1982; 153():83-93. PubMed ID: 7164925 [No Abstract] [Full Text] [Related]
20. Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency. Sass JO; Skladal D Pediatr Nephrol; 1999 Nov; 13(9):912-6. PubMed ID: 10603147 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]