BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 20236848)

  • 1. 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]  

  • 2. Argininosuccinate lyase deficiency.
    Nagamani SC; Erez A; Lee B
    Genet Med; 2012 May; 14(5):501-7. PubMed ID: 22241104
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
    Ficicioglu C; Mandell R; Shih VE
    Mol Genet Metab; 2009 Nov; 98(3):273-7. PubMed ID: 19635676
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
    Balmer C; Pandey AV; Rüfenacht V; Nuoffer JM; Fang P; Wong LJ; Häberle J
    Hum Mutat; 2014 Jan; 35(1):27-35. PubMed ID: 24166829
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    J Inherit Metab Dis; 2001 Jun; 24(3):370-8. PubMed ID: 11486903
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy.
    Widhalm K; Koch S; Scheibenreiter S; Knoll E; Colombo JP; Bachmann C; Thalhammer O
    Pediatrics; 1992 Jun; 89(6 Pt 2):1182-4. PubMed ID: 1594374
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency.
    Mori T; Nagai K; Mori M; Nagao M; Imamura M; Iijima M; Kobayashi K
    Pediatr Dev Pathol; 2002; 5(6):597-601. PubMed ID: 12370774
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
    Baruteau J; Diez-Fernandez C; Lerner S; Ranucci G; Gissen P; Dionisi-Vici C; Nagamani S; Erez A; Häberle J
    J Inherit Metab Dis; 2019 Nov; 42(6):1147-1161. PubMed ID: 30723942
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?
    van Spronsen FJ; Reijngoud DJ; Verhoeven NM; Soorani-Lunsing RJ; Jakobs C; Sijens PE
    Mol Genet Metab; 2006 Nov; 89(3):274-6. PubMed ID: 16580861
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
    Elkhateeb N; Olivieri G; Siri B; Boyd S; Stepien KM; Sharma R; Morris AAM; Hartley T; Crowther L; Grunewald S; Cleary M; Mundy H; Chakrapani A; Lachmann R; Murphy E; Santra S; Uudelepp ML; Yeo M; Bernhardt I; Sudakhar S; Chan A; Mills P; Ridout D; Gissen P; Dionisi-Vici C; Baruteau J
    Epilepsia; 2023 Jun; 64(6):1612-1626. PubMed ID: 36994644
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
    Hu L; Pandey AV; Balmer C; Eggimann S; Rüfenacht V; Nuoffer JM; Häberle J
    J Inherit Metab Dis; 2015 Sep; 38(5):815-27. PubMed ID: 25778938
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria.
    AlTassan R; Bubshait D; Imtiaz F; Rahbeeni Z
    Eur J Med Genet; 2018 Jun; 61(6):307-311. PubMed ID: 29326055
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Histopathological findings in livers of patients with urea cycle disorders.
    Yaplito-Lee J; Chow CW; Boneh A
    Mol Genet Metab; 2013 Mar; 108(3):161-5. PubMed ID: 23403242
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.