155 related articles for article (PubMed ID: 31709144)
21. Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Kido J; Matsumoto S; Sugawara K; Sawada T; Nakamura K
Am J Med Genet A; 2021 Jul; 185(7):2026-2036. PubMed ID: 33851512
[TBL] [Abstract][Full Text] [Related]
22. ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model.
Daly O; Mahiny AJ; Majeski S; McClintock K; Reichert J; Boros G; Szabó GT; Reinholz J; Schreiner P; Reid S; Lam K; Lepper M; Adler M; Meffen T; Heyes J; Karikó K; Lutwyche P; Vlatkovic I
Biomedicines; 2023 Jun; 11(6):. PubMed ID: 37371829
[TBL] [Abstract][Full Text] [Related]
23. Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
Engel K; Vuissoz JM; Eggimann S; Groux M; Berning C; Hu L; Klaus V; Moeslinger D; Mercimek-Mahmutoglu S; Stöckler S; Wermuth B; Häberle J; Nuoffer JM
J Inherit Metab Dis; 2012 Jan; 35(1):133-40. PubMed ID: 21667091
[TBL] [Abstract][Full Text] [Related]
24. Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
Burrage LC; Madan S; Li X; Ali S; Mohammad M; Stroup BM; Jiang MM; Cela R; Bertin T; Jin Z; Dai J; Guffey D; Finegold M; ; Nagamani S; Minard CG; Marini J; Masand P; Schady D; Shneider BL; Leung DH; Bali D; Lee B
JCI Insight; 2020 Feb; 5(4):. PubMed ID: 31990680
[TBL] [Abstract][Full Text] [Related]
25. [Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].
Lin Y; Yu K; Li L; Zheng Z; Lin W; Fu Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct; 34(5):676-679. PubMed ID: 28981931
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Argininosuccinate synthetase and argininosuccinate lyase: two ornithine cycle enzymes from Agaricus bisporus.
Wagemaker MJ; Eastwood DC; van der Drift C; Jetten MS; Burton K; Van Griensven LJ; Op den Camp HJ
Mycol Res; 2007 Apr; 111(Pt 4):493-502. PubMed ID: 17512708
[TBL] [Abstract][Full Text] [Related]
28. Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Kho J; Tian X; Wong WT; Bertin T; Jiang MM; Chen S; Jin Z; Shchelochkov OA; Burrage LC; Reddy AK; Jiang H; Abo-Zahrah R; Ma S; Zhang P; Bissig KD; Kim JJ; Devaraj S; Rodney GG; Erez A; Bryan NS; Nagamani SCS; Lee BH
Am J Hum Genet; 2018 Aug; 103(2):276-287. PubMed ID: 30075114
[TBL] [Abstract][Full Text] [Related]
29. ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus.
Lerner S; Anderzhanova E; Verbitsky S; Eilam R; Kuperman Y; Tsoory M; Kuznetsov Y; Brandis A; Mehlman T; Mazkereth R; ; McCarter R; Segal M; Nagamani SCS; Chen A; Erez A
Cell Rep; 2019 Nov; 29(8):2144-2153.e7. PubMed ID: 31747589
[TBL] [Abstract][Full Text] [Related]
30. Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report.
Osawa Y; Wada A; Ohtsu Y; Yamada K; Takizawa T
Mol Genet Metab Rep; 2020 Sep; 24():100605. PubMed ID: 32435591
[TBL] [Abstract][Full Text] [Related]
31. Study of serum argininosuccinate lyase determination for diagnosis of liver diseases.
Feng JF; Chen TM; Wen YA; Wang J; Tu ZG
J Clin Lab Anal; 2008; 22(3):220-7. PubMed ID: 18484660
[TBL] [Abstract][Full Text] [Related]
32. The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.
Peuscher R; Dijsselhof ME; Abeling NG; Van Rijn M; Van Spronsen FJ; Bosch AM
JIMD Rep; 2012; 5():127-30. PubMed ID: 23430928
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
Mercimek-Mahmutoglu S; Moeslinger D; Häberle J; Engel K; Herle M; Strobl MW; Scheibenreiter S; Muehl A; Stöckler-Ipsiroglu S
Mol Genet Metab; 2010 May; 100(1):24-8. PubMed ID: 20236848
[TBL] [Abstract][Full Text] [Related]
36. [Genetic diagnosis of a Chinese pedigree affected with neonatal argininosuccinic aciduria].
Li W; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):926-929. PubMed ID: 31515792
[TBL] [Abstract][Full Text] [Related]
37. Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.
Ganetzky RD; Bedoukian E; Deardorff MA; Ficicioglu C
JIMD Rep; 2017; 34():43-47. PubMed ID: 27515243
[TBL] [Abstract][Full Text] [Related]
38. Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.
Walker DC; Christodoulou J; Craig HJ; Simard LR; Ploder L; Howell PL; McInnes RR
J Biol Chem; 1997 Mar; 272(10):6777-83. PubMed ID: 9045711
[TBL] [Abstract][Full Text] [Related]
39. Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.
Sampaleanu LM; Vallée F; Thompson GD; Howell PL
Biochemistry; 2001 Dec; 40(51):15570-80. PubMed ID: 11747432
[TBL] [Abstract][Full Text] [Related]
40. Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects.
Nagasaka H; Tsukahara H; Yorifuji T; Miida T; Murayama K; Tsuruoka T; Takatani T; Kanazawa M; Kobayashi K; Okano Y; Takayanagi M
Metabolism; 2009 Mar; 58(3):278-82. PubMed ID: 19217439
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
