BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

144 related articles for article (PubMed ID: 14967154)

  • 1. Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.
    Meissner T; Mayatepek E; Kinner M; Santer R
    Clin Chim Acta; 2004 Mar; 341(1-2):23-6. PubMed ID: 14967154
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene.
    Tran C; Konstantopoulou V; Mecjia M; Perlman K; Mercimek-Mahmutoglu S; Kronick JB
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):873-6. PubMed ID: 25781533
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients.
    De Lonlay P; Benelli C; Fouque F; Ganguly A; Aral B; Dionisi-Vici C; Touati G; Heinrichs C; Rabier D; Kamoun P; Robert JJ; Stanley C; Saudubray JM
    Pediatr Res; 2001 Sep; 50(3):353-7. PubMed ID: 11518822
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.
    Santer R; Kinner M; Passarge M; Superti-Furga A; Mayatepek E; Meissner T; Schneppenheim R; Schaub J
    Hum Genet; 2001 Jan; 108(1):66-71. PubMed ID: 11214910
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.
    Stanley CA; Lieu YK; Hsu BY; Burlina AB; Greenberg CR; Hopwood NJ; Perlman K; Rich BH; Zammarchi E; Poncz M
    N Engl J Med; 1998 May; 338(19):1352-7. PubMed ID: 9571255
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA).
    Fang C; Ding X; Huang Y; Huang J; Zhao P; Hu J
    J Pediatr Endocrinol Metab; 2016 Mar; 29(3):385-8. PubMed ID: 26656609
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.
    Bahi-Buisson N; Roze E; Dionisi C; Escande F; Valayannopoulos V; Feillet F; Heinrichs C; Chadefaux-Vekemans B; Dan B; de Lonlay P
    Dev Med Child Neurol; 2008 Dec; 50(12):945-9. PubMed ID: 19046187
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two unrelated Chinese patients with hyperinsulinism /hyperammonemia (HI/HA) syndrome due to mutations in glutamate dehydrogenase gene.
    Diao C; Chen S; Xiao X; Wang T; Sun X; Wang O; Song H; Zhang Y; Yu M; Zhang Q; Wang H
    J Pediatr Endocrinol Metab; 2010 Jul; 23(7):733-8. PubMed ID: 20857847
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.
    Kapoor RR; Flanagan SE; Fulton P; Chakrapani A; Chadefaux B; Ben-Omran T; Banerjee I; Shield JP; Ellard S; Hussain K
    Eur J Endocrinol; 2009 Nov; 161(5):731-5. PubMed ID: 19690084
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature.
    Ninković D; Sarnavka V; Bašnec A; Ćuk M; Ramadža DP; Fumić K; Kušec V; Santer R; Barić I
    J Pediatr Endocrinol Metab; 2016 Sep; 29(9):1083-8. PubMed ID: 27383869
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome.
    Balasubramaniam S; Kapoor R; Yeow JH; Lim PG; Flanagan S; Ellard S; Hussain K
    J Pediatr Endocrinol Metab; 2011; 24(7-8):573-7. PubMed ID: 21932603
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome.
    Aso K; Okano Y; Takeda T; Sakamoto O; Ban K; Iida K; Yamano T; Shintaku H
    Osaka City Med J; 2011 Jun; 57(1):1-9. PubMed ID: 22106762
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene.
    Corrêa-Giannella ML; Freire DS; Cavaleiro AM; Fortes MA; Giorgi RR; Pereira MA
    Arq Bras Endocrinol Metabol; 2012 Nov; 56(8):485-9. PubMed ID: 23295286
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.
    Boodhansingh KE; Rosenfeld E; Lord K; Adzick NS; Bhatti T; Ganguly A; De Leon DD; Stanley CA
    Horm Res Paediatr; 2022; 95(5):492-498. PubMed ID: 35952631
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1.
    Roy K; Satapathy AK; Houhton JAL; Flanagan SE; Radha V; Mohan V; Sharma R; Jain V
    Indian J Pediatr; 2019 Nov; 86(11):1051-1053. PubMed ID: 31119523
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Glutamate Dehydrogenase as a Promising Target for Hyperinsulinism Hyperammonemia Syndrome Therapy.
    Bian Y; Hou W; Chen X; Fang J; Xu N; Ruan BH
    Curr Med Chem; 2022; 29(15):2652-2672. PubMed ID: 34525914
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.
    Hsu BY; Kelly A; Thornton PS; Greenberg CR; Dilling LA; Stanley CA
    J Pediatr; 2001 Mar; 138(3):383-9. PubMed ID: 11241047
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Hyperinsulinism-hyperammonemia syndrome due to a de novo mutation in exon 7 (G979A) of the glutamate dehydrogenase gene with excellent response to diazoxide].
    Montero Luis C; Pozo Román J; Muñoz Calvo MT; Martos Moreno G; Donoso MA; Rubio Cabezas O; Argente Oliver J
    An Pediatr (Barc); 2004 Nov; 61(5):433-7. PubMed ID: 15530324
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report.
    Odom J; Gieron-Korthals M; Shulman D; Newkirk P; Prijoles E; Sanchez-Valle A
    J Med Case Rep; 2016 Feb; 10():25. PubMed ID: 26839063
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism.
    Stanley CA
    Mol Genet Metab; 2004 Apr; 81 Suppl 1():S45-51. PubMed ID: 15050973
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.