Cited by

• 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. Engel K, et al. J Inherit Metab Dis. 2012 Jan;35(1):133-40. doi: 10.1007/s10545-011-9357-x. Epub 2011 Jun 11. J Inherit Metab Dis. 2012. PMID: 21667091
• Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency.

  Ali EZ, Yakob Y, Ngu LH. Ali EZ, et al. Mol Genet Metab Rep. 2019 Oct 24;21:100525. doi: 10.1016/j.ymgmr.2019.100525. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31709144 Free PMC article.
• Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.

  Trevisson E, Burlina A, Doimo M, Pertegato V, Casarin A, Cesaro L, Navas P, Basso G, Sartori G, Salviati L. Trevisson E, et al. J Biol Chem. 2009 Oct 16;284(42):28926-34. doi: 10.1074/jbc.M109.050195. Epub 2009 Aug 24. J Biol Chem. 2009. PMID: 19703900 Free PMC article.
• Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.

  Stadler S, Gempel K, Bieger I, Pontz BF, Gerbitz KD, Bauer MF, Hofmann S. Stadler S, et al. J Inherit Metab Dis. 2001 Jun;24(3):370-8. doi: 10.1023/a:1010560704092. J Inherit Metab Dis. 2001. PMID: 11486903
• 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. Wen W, et al. BMC Med Genet. 2016 Feb 3;17:9. doi: 10.1186/s12881-016-0273-7. BMC Med Genet. 2016. PMID: 26843370 Free PMC article.