BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

202 related articles for article (PubMed ID: 29773863)

  • 1. Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
    Kim D; Ko JM; Kim YM; Seo GH; Kim GH; Lee BH; Yoo HW
    J Hum Genet; 2018 Jul; 63(8):911-917. PubMed ID: 29773863
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
    Erez A; Nagamani SC; Lee B
    Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):45-53. PubMed ID: 21312326
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
    Silvera-Ruiz SM; Arranz JA; Häberle J; Angaroni CJ; Bezard M; Guelbert N; Becerra A; Peralta F; de Kremer RD; Laróvere LE
    Orphanet J Rare Dis; 2019 Aug; 14(1):203. PubMed ID: 31426867
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. The incidence of urea cycle disorders.
    Summar ML; Koelker S; Freedenberg D; Le Mons C; Haberle J; Lee HS; Kirmse B; ;
    Mol Genet Metab; 2013; 110(1-2):179-80. PubMed ID: 23972786
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.
    Diez-Fernandez C; Hertig D; Loup M; Diserens G; Henry H; Vermathen P; Nuoffer JM; Häberle J; Braissant O
    J Inherit Metab Dis; 2019 Nov; 42(6):1077-1087. PubMed ID: 30907007
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders.
    Soria LR; Gurung S; De Sabbata G; Perocheau DP; De Angelis A; Bruno G; Polishchuk E; Paris D; Cuomo P; Motta A; Orford M; Khalil Y; Eaton S; Mills PB; Waddington SN; Settembre C; Muro AF; Baruteau J; Brunetti-Pierri N
    EMBO Mol Med; 2021 Feb; 13(2):e13158. PubMed ID: 33369168
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.
    Hu L; Pandey AV; Eggimann S; Rüfenacht V; Möslinger D; Nuoffer JM; Häberle J
    J Biol Chem; 2013 Nov; 288(48):34599-611. PubMed ID: 24136197
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria.
    Ashley SN; Nordin JML; Buza EL; Greig JA; Wilson JM
    Mol Genet Metab; 2018 Nov; 125(3):241-250. PubMed ID: 30253962
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
    Kölker S; Valayannopoulos V; Burlina AB; Sykut-Cegielska J; Wijburg FA; Teles EL; Zeman J; Dionisi-Vici C; Barić I; Karall D; Arnoux JB; Avram P; Baumgartner MR; Blasco-Alonso J; Boy SP; Rasmussen MB; Burgard P; Chabrol B; Chakrapani A; Chapman K; Cortès I Saladelafont E; Couce ML; de Meirleir L; Dobbelaere D; Furlan F; Gleich F; González MJ; Gradowska W; Grünewald S; Honzik T; Hörster F; Ioannou H; Jalan A; Häberle J; Haege G; Langereis E; de Lonlay P; Martinelli D; Matsumoto S; Mühlhausen C; Murphy E; de Baulny HO; Ortez C; Pedrón CC; Pintos-Morell G; Pena-Quintana L; Ramadža DP; Rodrigues E; Scholl-Bürgi S; Sokal E; Summar ML; Thompson N; Vara R; Pinera IV; Walter JH; Williams M; Lund AM; Garcia-Cazorla A
    J Inherit Metab Dis; 2015 Nov; 38(6):1059-74. PubMed ID: 25875216
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders.
    Brambilla A; Bianchi ML; Cancello R; Galimberti C; Gasperini S; Pretese R; Rigoldi M; Tursi S; Parini R
    J Inherit Metab Dis; 2019 Nov; 42(6):1105-1117. PubMed ID: 31056765
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
    Bijarnia-Mahay S; Häberle J; Jalan AB; Puri RD; Kohli S; Kudalkar K; Rüfenacht V; Gupta D; Maurya D; Verma J; Shigematsu Y; Yamaguchi S; Saxena R; Verma IC
    Orphanet J Rare Dis; 2018 Oct; 13(1):174. PubMed ID: 30285816
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.
    Liu F; Bao LS; Liang RJ; Zhao XY; Li Z; Du ZF; Lv SG
    J Cell Mol Med; 2021 Apr; 25(8):4099-4109. PubMed ID: 33611823
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
    Nagamani SC; Campeau PM; Shchelochkov OA; Premkumar MH; Guse K; Brunetti-Pierri N; Chen Y; Sun Q; Tang Y; Palmer D; Reddy AK; Li L; Slesnick TC; Feig DI; Caudle S; Harrison D; Salviati L; Marini JC; Bryan NS; Erez A; Lee B
    Am J Hum Genet; 2012 May; 90(5):836-46. PubMed ID: 22541557
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
    Waisbren SE; Gropman AL; ; Batshaw ML
    J Inherit Metab Dis; 2016 Jul; 39(4):573-84. PubMed ID: 27215558
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Hereditary urea cycle diseases in Finland.
    Keskinen P; Siitonen A; Salo M
    Acta Paediatr; 2008 Oct; 97(10):1412-9. PubMed ID: 18616627
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.