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.
136 related articles for article (PubMed ID: 36807131)
21. Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation. Duff C; Islam M; Gagliano O; Pramod H; Rashidi H; Kurian MA; Gissen P; Baruteau J Stem Cell Res; 2024 Apr; 76():103365. PubMed ID: 38422816 [TBL] [Abstract][Full Text] [Related]
22. Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors. Jalil S; Keskinen T; Juutila J; Sartori Maldonado R; Euro L; Suomalainen A; Lapatto R; Kuuluvainen E; Hietakangas V; Otonkoski T; Hyvönen ME; Wartiovaara K Am J Hum Genet; 2024 Apr; 111(4):714-728. PubMed ID: 38579669 [TBL] [Abstract][Full Text] [Related]
23. 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]
24. Myocardial sympathetic denervation, fatty acid metabolism, and left ventricular wall motion in vasospastic angina. Watanabe K; Takahashi T; Miyajima S; Hirokawa Y; Tanabe N; Kato K; Kodama M; Aizawa Y; Tazawa S; Inoue M J Nucl Med; 2002 Nov; 43(11):1476-81. PubMed ID: 12411551 [TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. 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]
33. Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. Chen BC; Ngu LH; Zabedah MY Malays J Pathol; 2010 Dec; 32(2):87-95. PubMed ID: 21329179 [TBL] [Abstract][Full Text] [Related]
34. Expanding the phenotype in argininosuccinic aciduria: need for new therapies. Baruteau J; Jameson E; Morris AA; Chakrapani A; Santra S; Vijay S; Kocadag H; Beesley CE; Grunewald S; Murphy E; Cleary M; Mundy H; Abulhoul L; Broomfield A; Lachmann R; Rahman Y; Robinson PH; MacPherson L; Foster K; Chong WK; Ridout DA; Bounford KM; Waddington SN; Mills PB; Gissen P; Davison JE J Inherit Metab Dis; 2017 May; 40(3):357-368. PubMed ID: 28251416 [TBL] [Abstract][Full Text] [Related]
35. Clinical and genetic analysis of five Chinese patients with urea cycle disorders. Zheng Z; Lin Y; Lin W; Zhu L; Jiang M; Wang W; Fu Q Mol Genet Genomic Med; 2020 Jul; 8(7):e1301. PubMed ID: 32410394 [TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant. Özçay F; Barış Z; Moray G; Haberal N; Torgay A; Haberal M Exp Clin Transplant; 2015 Nov; 13 Suppl 3():126-30. PubMed ID: 26640932 [TBL] [Abstract][Full Text] [Related]
39. Case 3: The Hypothermic Newborn. Erickson J; Schrier Vergano SA Neoreviews; 2019 Feb; 20(2):e93-e95. PubMed ID: 31261091 [No Abstract] [Full Text] [Related]
40. 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] [Previous] [Next] [New Search]