Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism.
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Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onsetSIRT5 Deacetylates carbamoyl phosphate synthetase 1 and regulates the urea cycleMammalian sirtuins: biological insights and disease relevanceGlutamate: a truly functional amino acid.Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.Amino acid homeostasis and signalling in mammalian cells and organisms.N-acetylglutamate synthase: structure, function and defects.A small system--high-resolution study of metabolic adaptation in the central metabolic pathway to temperate climates in Drosophila melanogasterMolecular mechanisms of protein induced hyperinsulinaemic hypoglycaemia.Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenaseLeucine metabolism in regulation of insulin secretion from pancreatic beta cells.Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.Beyond histone and deacetylase: an overview of cytoplasmic histone deacetylases and their nonhistone substratesN-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.Robust regulation of hepatic pericentral amination by glutamate dehydrogenase kinetics.From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels.A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report.Hyperinsulinism Hyperammonemia Syndrome, a Rare Clinical ConstellationClinical and molecular characterisation of 300 patients with congenital hyperinsulinism.Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian PatientsEffects of a single dose of N-carbamylglutamate on the rate of ureagenesis.New developments in the treatment of hyperammonemia: emerging use of carglumic acid.Current understanding of K ATP channels in neonatal diseases: focus on insulin secretion disorders.Glutamate dehydrogenase in brain mitochondria: do lipid modifications and transient metabolon formation influence enzyme activity?Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.Intertissue differences for the role of glutamate dehydrogenase in metabolism.Beta Cell Function and the Nutritional State: Dietary Factors that Influence Insulin Secretion.New views on the selection acting on genetic polymorphism in central metabolic genes.Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.Enzyme Complexes Important for the Glutamate-Glutamine Cycle.Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene.Modulatory effect of resveratrol on SIRT1, SIRT3, SIRT4, PGC1α and NAMPT gene expression profiles in wild-type adult zebrafish liver.Hyperinsulinism-hyperammonemia syndrome in an infant with seizures
P2860
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P2860
Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Hyperinsulinism/hyperammonemia ...... ogenase in ammonia metabolism.
@ast
Hyperinsulinism/hyperammonemia ...... ogenase in ammonia metabolism.
@en
type
label
Hyperinsulinism/hyperammonemia ...... ogenase in ammonia metabolism.
@ast
Hyperinsulinism/hyperammonemia ...... ogenase in ammonia metabolism.
@en
prefLabel
Hyperinsulinism/hyperammonemia ...... ogenase in ammonia metabolism.
@ast
Hyperinsulinism/hyperammonemia ...... ogenase in ammonia metabolism.
@en
P1476
Hyperinsulinism/hyperammonemia ...... ogenase in ammonia metabolism.
@en
P304
P356
10.1016/J.YMGME.2003.10.013
P478
81 Suppl 1
P577
2004-04-01T00:00:00Z