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.
45. Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy. Sims EJ; Clark A; McCormick J; Mehta G; Connett G; Mehta A; Pediatrics; 2007 Jan; 119(1):19-28. PubMed ID: 17200267 [TBL] [Abstract][Full Text] [Related]
46. 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]
47. 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]
48. Hereditary urea cycle diseases in Finland. Keskinen P; Siitonen A; Salo M Acta Paediatr; 2008 Oct; 97(10):1412-9. PubMed ID: 18616627 [TBL] [Abstract][Full Text] [Related]
49. Optimizing therapy for argininosuccinic aciduria. Nagamani SC; Lee B; Erez A Mol Genet Metab; 2012 Sep; 107(1-2):10-4. PubMed ID: 22841516 [TBL] [Abstract][Full Text] [Related]
55. Glutaric acidemia type 1: outcomes before and after expanded newborn screening. Viau K; Ernst SL; Vanzo RJ; Botto LD; Pasquali M; Longo N Mol Genet Metab; 2012 Aug; 106(4):430-8. PubMed ID: 22728054 [TBL] [Abstract][Full Text] [Related]
56. Urea cycle disorders: clinical presentation outside the newborn period. Smith W; Kishnani PS; Lee B; Singh RH; Rhead WJ; Sniderman King L; Smith M; Summar M Crit Care Clin; 2005 Oct; 21(4 Suppl):S9-17. PubMed ID: 16227115 [TBL] [Abstract][Full Text] [Related]
57. [Argininosuccinic aciduria. A new case revealed by psychiatric disorders]. Odent S; Roussey M; Journel H; Betremieux P; David V; Le Marec B J Genet Hum; 1989 Jan; 37(1):39-42. PubMed ID: 2715782 [TBL] [Abstract][Full Text] [Related]
59. 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]
60. Late-onset argininosuccinic aciduria in a 72-year-old man presenting with fatal hyperammonemia. Leuger L; Dieu X; Chao de la Barca JM; Moriconi M; Halley G; Donin de Rosière X; Reynier P; Mirebeau-Prunier D; Homedan C JIMD Rep; 2021 Nov; 62(1):44-48. PubMed ID: 34765397 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]