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26. From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria. Zielonka M; Garbade SF; Gleich F; Okun JG; Nagamani SCS; Gropman AL; Hoffmann GF; Kölker S; Posset R; Hum Mutat; 2020 May; 41(5):946-960. PubMed ID: 31943503 [TBL] [Abstract][Full Text] [Related]
27. 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]
28. Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. Baruteau J; Perocheau DP; Hanley J; Lorvellec M; Rocha-Ferreira E; Karda R; Ng J; Suff N; Diaz JA; Rahim AA; Hughes MP; Banushi B; Prunty H; Hristova M; Ridout DA; Virasami A; Heales S; Howe SJ; Buckley SMK; Mills PB; Gissen P; Waddington SN Nat Commun; 2018 Aug; 9(1):3505. PubMed ID: 30158522 [TBL] [Abstract][Full Text] [Related]
29. Multi-criteria decision making approach and experimental design as chemometric tools to optimize HPLC separation of domperidone and pantoprazole. Sivakumar T; Manavalan R; Muralidharan C; Valliappan K J Pharm Biomed Anal; 2007 Apr; 43(5):1842-8. PubMed ID: 17208403 [TBL] [Abstract][Full Text] [Related]
30. N-hydroxysuccinimidyl-fluorescein-O-acetate for precolumn fluorescence derivatization of amino acids and oligopeptides in liquid chromatography. Wang H; Li J; Yang TX; Zhang HS J Chromatogr Sci; 2001 Sep; 39(9):365-9. PubMed ID: 11565945 [TBL] [Abstract][Full Text] [Related]
31. [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]
32. 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]
33. [Attempt at antenatal diagnosis of argininosuccinic aciduria]. Dhondt JL; Farriaux JP; Pollitt RJ; Vamos E; Richard P; Blanckaert D; Delecour M; Monnier JC; Fontaine G Ann Genet; 1976 Mar; 19(1):23-7. PubMed ID: 1084118 [TBL] [Abstract][Full Text] [Related]
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35. 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]
36. 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]
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38. Experience with the treatment of argininosuccinic aciduria during pregnancy. Reid L; Perreault E; Lafrance G; Clarke JT J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S191-5. PubMed ID: 19585269 [TBL] [Abstract][Full Text] [Related]
39. A mouse model of argininosuccinic aciduria: biochemical characterization. Reid Sutton V; Pan Y; Davis EC; Craigen WJ Mol Genet Metab; 2003 Jan; 78(1):11-6. PubMed ID: 12559843 [TBL] [Abstract][Full Text] [Related]
40. A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders. Talbot HW; Sumlin AB; Naylor EW; Guthrie R Pediatrics; 1982 Oct; 70(4):526-31. PubMed ID: 7122151 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]