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1 - 10 of 22 results found for GLUD1.

  1. Hyperinsulinism-hyperammonaemia (HI/HA) syndrome: novel mutations in the GLUD1 gene and...

    http://iris.ucl.ac.uk/iris/publication/126337/1

  2. Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo...

    Hyperinsulinism-hyperammonemia syndrome (HI/HA) (OMIM 606762), the second most common form of congenital hyperinsulinism (CHI) is associated with activating missense mutations in the GLUD1 gene, which encodes the mitochondrial matrix enzyme,

    http://iris.ucl.ac.uk/iris/publication/359212/7

  3. Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and...

    Background: Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism-hyperammonaemia (HI/HA) syndrome. Patients present with HA and leucine-sensitive

    http://iris.ucl.ac.uk/iris/publication/125877/1

  4. Hyperinsulinism-hyperammonaemia syndrome: novel mutations in

    BACKGROUND: Activating mutations in the GLUD1 gene (which

    http://iris.ucl.ac.uk/iris/publication/125876/1

  5. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

    BACKGROUND: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) are known to cause CHI. AIM: To characterise the clinical and molecular

    http://iris.ucl.ac.uk/iris/publication/857238/2

  6. Molecular mechanisms of congenital hyperinsulinism

    Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic b-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the

    http://iris.ucl.ac.uk/iris/publication/1037025/7

  7. Advances in the diagnosis and management of hyperinsulinemic hypoglycemia

    Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic beta-cells and is a major cause of hypoglycemic brain injury and mental retardation. Congenital HH is caused by mutations in genes involved in

    http://iris.ucl.ac.uk/iris/publication/118922/1

  8. Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function...

    BACKGROUND: Loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (HADH) cause protein sensitive hyperinsulinaemic hypoglycaemia (HH). HADH encodes short chain 3-hydroxacyl-CoA dehydrogenase, an enzyme that catalyses the penultimate reaction

    http://iris.ucl.ac.uk/iris/publication/410358/2

  9. Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic...

    Background: Hyperinsulinaemic hypoglycaemia (HH) is a group of clinically and genetically heterogeneous disorders characterized by unregulated insulin secretion. Abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A,

    http://iris.ucl.ac.uk/iris/publication/1046552/7

  10. Genetics and pathophysiology of hyperinsulinism in infancy

    Hyperinsulinism in infancy (HI) is a condition of neonates and early childhood. For many years the pathophysiology of this potentially lethal disorder was unknown. Advances in the genetics, histopathology and molecular physiology of this disease

    http://iris.ucl.ac.uk/iris/publication/54035/1

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