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.
24. NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study. Wen W; Yin D; Huang F; Guo M; Tian T; Zhu H; Yang Y BMC Med Genet; 2016 Feb; 17():9. PubMed ID: 26843370 [TBL] [Abstract][Full Text] [Related]
25. Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea. Kim D; Ko JM; Kim YM; Seo GH; Kim GH; Lee BH; Yoo HW J Hum Genet; 2018 Jul; 63(8):911-917. PubMed ID: 29773863 [TBL] [Abstract][Full Text] [Related]
28. Use of continuous hemodiafiltration for the treatment of a neonate with hyperammonemia secondary to argininosuccinate lyase (ASAL) deficiency. Raturi S; Venkatesh IH; Nagesh NK; Venkatagiri P Indian J Pediatr; 2013 Sep; 80(9):794-5. PubMed ID: 23539248 [No Abstract] [Full Text] [Related]
29. Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography. Naylor SL; Klebe RJ; Shows TB Proc Natl Acad Sci U S A; 1978 Dec; 75(12):6159-62. PubMed ID: 282632 [TBL] [Abstract][Full Text] [Related]
30. Requirement of argininosuccinate lyase for systemic nitric oxide production. Erez A; Nagamani SC; Shchelochkov OA; Premkumar MH; Campeau PM; Chen Y; Garg HK; Li L; Mian A; Bertin TK; Black JO; Zeng H; Tang Y; Reddy AK; Summar M; O'Brien WE; Harrison DG; Mitch WE; Marini JC; Aschner JL; Bryan NS; Lee B Nat Med; 2011 Nov; 17(12):1619-26. PubMed ID: 22081021 [TBL] [Abstract][Full Text] [Related]
31. To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening. Heng TYJ; Ow JR; Koh AL; Lim JSC; Ong CBK; Goh JCY; Lim JY; Chiou FK; Jamuar SS Clin Dysmorphol; 2024 Jan; 33(1):43-49. PubMed ID: 37865865 [TBL] [Abstract][Full Text] [Related]
32. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Linnebank M; Tschiedel E; Häberle J; Linnebank A; Willenbring H; Kleijer WJ; Koch HG Hum Genet; 2002 Oct; 111(4-5):350-9. PubMed ID: 12384776 [TBL] [Abstract][Full Text] [Related]
33. Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in Zhao M; Hou L; Teng H; Li J; Wang J; Zhang K; Yang L Biomed Res Int; 2019; 2019():3530198. PubMed ID: 31183366 [TBL] [Abstract][Full Text] [Related]
34. Hydrogen sulfide: in the aftermath of argininosuccinate lyase and nitric oxide deficiency. Srilatha B; Meng J; Adaikan PG Genet Med; 2012 Jun; 14(6):627; author reply 627-8. PubMed ID: 22669619 [No Abstract] [Full Text] [Related]
35. 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. PubMed ID: 21710918 [No Abstract] [Full Text] [Related]
36. Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency. Ediger K; Hicks A; Siriwardena K; Joynt C BMJ Case Rep; 2021 Mar; 14(3):. PubMed ID: 33789861 [TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
39. Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases. Yankol Y; Mecit N; Kanmaz T; Acarli K; Kalayoglu M Exp Clin Transplant; 2017 Oct; 15(5):581-584. PubMed ID: 26768012 [TBL] [Abstract][Full Text] [Related]