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 *

136 related articles for article (PubMed ID: 19046183)

  • 1. Neurological aspects in hyperinsulinism-hyperammonaemia syndrome.
    Kelly A; Stanley CA
    Dev Med Child Neurol; 2008 Dec; 50(12):888. PubMed ID: 19046183
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the glutamate dehydrogenase 1 gene.
    Chik KK; Chan CW; Lam CW; Ng KL
    J Paediatr Child Health; 2008 Sep; 44(9):517-9. PubMed ID: 18928469
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations.
    Raizen DM; Brooks-Kayal A; Steinkrauss L; Tennekoon GI; Stanley CA; Kelly A
    J Pediatr; 2005 Mar; 146(3):388-94. PubMed ID: 15756227
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A case of hyperinsulinism/hyperammonaemia syndrome: usefulness of the oral protein tolerance for the evaluation of treatment.
    Toriumi Y; Murata K; Taketani T; Uchiyama A; Ohie T; Yamaguchi S
    Eur J Pediatr; 2005 Mar; 164(3):182-3. PubMed ID: 15580356
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. Interaction of islet α-cell and β-cell in the regulation of glucose homeostasis in HI/HA syndrome patients with the GDH(H454Y) mutation.
    Jia G; Sowers JR
    Diabetes; 2014 Dec; 63(12):4008-10. PubMed ID: 25414017
    [No Abstract]   [Full Text] [Related]  

  • 11. Molecular characterisation of glutamate dehydrogenase gene defects in Japanese patients with congenital hyperinsulinism/hyperammonaemia.
    Fujioka H; Okano Y; Inada H; Asada M; Kawamura T; Hase Y; Yamano T
    Eur J Hum Genet; 2001 Dec; 9(12):931-7. PubMed ID: 11840195
    [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. 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]  

  • 14. 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]  

  • 15. Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.
    MacMullen C; Fang J; Hsu BY; Kelly A; de Lonlay-Debeney P; Saudubray JM; Ganguly A; Smith TJ; Stanley CA;
    J Clin Endocrinol Metab; 2001 Apr; 86(4):1782-7. PubMed ID: 11297618
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Intractable absence seizures in hyperinsulinism-hyperammonemia syndrome.
    Nakano K; Kobayashi K; Okano Y; Aso K; Ohtsuka Y
    Pediatr Neurol; 2012 Aug; 47(2):119-22. PubMed ID: 22759688
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome.
    Kelly A; Ng D; Ferry RJ; Grimberg A; Koo-McCoy S; Thornton PS; Stanley CA
    J Clin Endocrinol Metab; 2001 Aug; 86(8):3724-8. PubMed ID: 11502802
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hyperammonemia and positive allopurinol test in hyperinsulinism-hyperammonemia syndrome: Taiwanese case report.
    Lin LC; Hwu WL; Yang RC
    Pediatr Int; 2009 Apr; 51(2):305-7. PubMed ID: 19379266
    [No Abstract]   [Full Text] [Related]  

  • 20. Mitochondrial GTP insensitivity contributes to hypoglycemia in hyperinsulinemia hyperammonemia by inhibiting glucagon release.
    Kibbey RG; Choi CS; Lee HY; Cabrera O; Pongratz RL; Zhao X; Birkenfeld AL; Li C; Berggren PO; Stanley C; Shulman GI
    Diabetes; 2014 Dec; 63(12):4218-29. PubMed ID: 25024374
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.