These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 30440076)

  • 1. A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency.
    Ünal Ö; Ceylaner S; Akın R
    Neuropediatrics; 2019 Feb; 50(1):51-53. PubMed ID: 30440076
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
    Roifman M; Niles KM; MacNeil L; Blaser S; Noor A; Godoy R; van Mieghem T; Ryan G; Seaward G; Sondheimer N; Mercimek-Andrews S; Schulze A; Hewson S; Ovadia A; Chitayat D; Morgen EK; Hojilla C; Kolomietz E; Watkins N; Häberle J; Shannon P
    Clin Genet; 2020 Dec; 98(6):613-619. PubMed ID: 32888207
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.
    Hu L; Ibrahim K; Stucki M; Frapolli M; Shahbeck N; Chaudhry FA; Görg B; Häussinger D; Penberthy WT; Ben-Omran T; Häberle J
    J Inherit Metab Dis; 2015 Nov; 38(6):1075-83. PubMed ID: 25896882
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Inborn error of amino acid synthesis: human glutamine synthetase deficiency.
    Häberle J; Görg B; Toutain A; Rutsch F; Benoist JF; Gelot A; Suc AL; Koch HG; Schliess F; Häussinger D
    J Inherit Metab Dis; 2006; 29(2-3):352-8. PubMed ID: 16763901
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital glutamine deficiency with glutamine synthetase mutations.
    Häberle J; Görg B; Rutsch F; Schmidt E; Toutain A; Benoist JF; Gelot A; Suc AL; Höhne W; Schliess F; Häussinger D; Koch HG
    N Engl J Med; 2005 Nov; 353(18):1926-33. PubMed ID: 16267323
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.
    Häberle J; Shahbeck N; Ibrahim K; Schmitt B; Scheer I; O'Gorman R; Chaudhry FA; Ben-Omran T
    Orphanet J Rare Dis; 2012 Jul; 7():48. PubMed ID: 22830360
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital glutamine deficiency with glutamine synthetase mutations.
    Rose C; Jalan R
    N Engl J Med; 2006 Mar; 354(10):1093-4; author reply 1093-4. PubMed ID: 16528811
    [No Abstract]   [Full Text] [Related]  

  • 8. Natural course of glutamine synthetase deficiency in a 3 year old patient.
    Häberle J; Shahbeck N; Ibrahim K; Hoffmann GF; Ben-Omran T
    Mol Genet Metab; 2011 May; 103(1):89-91. PubMed ID: 21353613
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular Mechanisms of Glutamine Synthetase Mutations that Lead to Clinically Relevant Pathologies.
    Frieg B; Görg B; Homeyer N; Keitel V; Häussinger D; Gohlke H
    PLoS Comput Biol; 2016 Feb; 12(2):e1004693. PubMed ID: 26836257
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.
    Wiwattanadittakul N; Prust M; Gaillard WD; Massaro A; Vezina G; Tsuchida TN; Gropman AL
    Mol Genet Metab; 2018 Nov; 125(3):235-240. PubMed ID: 30197275
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis.
    Spodenkiewicz M; Diez-Fernandez C; Rüfenacht V; Gemperle-Britschgi C; Häberle J
    Biology (Basel); 2016 Oct; 5(4):. PubMed ID: 27775558
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].
    Shen YW; Weng ZF; He W; Chen YH; Wang QH; Zou LP; Liu LY; Shang-Guan HK
    Zhonghua Er Ke Za Zhi; 2020 Dec; 58(12):1006-1012. PubMed ID: 33256324
    [No Abstract]   [Full Text] [Related]  

  • 13. Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
    Jones AG; Aquilino M; Tinker RJ; Duncan L; Jenkins Z; Carvill GL; DeWard SJ; Grange DK; Hajianpour MJ; Halliday BJ; Holder-Espinasse M; Horvath J; Maitz S; Nigro V; Morleo M; Paul V; Spencer C; Esterhuizen AI; Polster T; Spano A; Gómez-Lozano I; Kumar A; Poke G; Phillips JA; Underhill HR; Gimenez G; Namba T; Robertson SP
    Am J Hum Genet; 2024 Apr; 111(4):729-741. PubMed ID: 38579670
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Glutamine synthetase deficiency in murine astrocytes results in neonatal death.
    He Y; Hakvoort TB; Vermeulen JL; Labruyère WT; De Waart DR; Van Der Hel WS; Ruijter JM; Uylings HB; Lamers WH
    Glia; 2010 Apr; 58(6):741-54. PubMed ID: 20140959
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.
    Sacharow SJ; Dudenhausen EE; Lomelino CL; Rodan L; El Achkar CM; Olson HE; Genetti CA; Agrawal PB; McKenna R; Kilberg MS
    Mol Genet Metab; 2018 Mar; 123(3):317-325. PubMed ID: 29279279
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Influence of glutamine synthetase gene polymorphisms on the development of hyperammonemia during valproic acid-based therapy.
    Inoue K; Takahashi T; Yamamoto Y; Suzuki E; Takahashi Y; Imai K; Inoue Y; Hirai K; Tsuji D; Itoh K
    Seizure; 2015 Dec; 33():76-80. PubMed ID: 26599579
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Congenital glutamine deficiency with glutamine synthetase mutations.
    Kölker S; Hoffmann GF; Okun JG
    N Engl J Med; 2006 Mar; 354(10):1093-4; author reply 1093-4. PubMed ID: 16525152
    [No Abstract]   [Full Text] [Related]  

  • 18. Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency.
    Lee WT; Lin JH; Weng WC; Peng SS
    Hum Brain Mapp; 2017 Mar; 38(3):1532-1540. PubMed ID: 27859928
    [TBL] [Abstract][Full Text] [Related]  

  • 19. D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle.
    Baker NS; Sarnat HB; Jack RM; Patterson K; Shaw DW; Herndon SP
    J Child Neurol; 1997 Jan; 12(1):31-6. PubMed ID: 9010793
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hepatic glutamine synthetase deficiency in fatal hyperammonemia after lung transplantation.
    Tuchman M; Lichtenstein GR; Rajagopal BS; McCann MT; Furth EE; Bavaria J; Kaplan PB; Gibson JB; Berry GT
    Ann Intern Med; 1997 Sep; 127(6):446-9. PubMed ID: 9313001
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.