(Q34469238)

2 August 2017

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title

Disorders of glutamate metabolism (English)

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2 August 2017

Kelly A

1

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2 August 2017

Stanley CA

series ordinal

2

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2 August 2017

publication date

1 January 2001

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Mental Retardation and Developmental Disabilities Research Reviews

2 August 2017

published in

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2 August 2017

volume

7

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2 August 2017

issue

4

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2 August 2017

page(s)

287-295

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A mass isotopomer study of urea and glutamine synthesis from 15N-labeled ammonia in the perfused rat liver.

2 August 2017

cites work

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Identification of a peptide of the guanosine triphosphate binding site within brain glutamate dehydrogenase isoproteins using 8-azidoguanosine triphosphate

21 January 2018

1 reference

Multiple system degeneration with glutamate dehydrogenase deficiency: pathology and biochemistry

21 January 2018

1 reference

Familial hypoglycemia precipitated by amino acids

21 January 2018

1 reference

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31

21 January 2018

1 reference

Late-onset form of partial N-acetylglutamate synthetase deficiency

21 January 2018

1 reference

Activation of glutamate dehydrogenase by leucine and its nonmetabolizable analogue in rat brain synaptosomes.

21 January 2018

1 reference

Glutamate dehydrogenase in olivopontocerebellar atrophies: leukocytes, fibroblasts, and muscle mitochondria

21 January 2018

1 reference

Glucose regulation of glutaminolysis and its role in insulin secretion

21 January 2018

1 reference

Current perspectives on pyridoxine-dependent seizures

21 January 2018

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Glutamine metabolism in the liver: overview and current concepts

21 January 2018

1 reference

Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.

21 January 2018

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Disturbance of GABA metabolism in pyridoxine-dependent seizures

21 January 2018

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Glutamine transport in brain mitochondria

21 January 2018

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Vitamin B6-dependent seizures: Pathology and chemical findings in brain

21 January 2018

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Mitochondrial glutamate acts as a messenger in glucose-induced insulin exocytosis.

21 January 2018

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Modulation of glutamate generation in mitochondria affects hormone secretion in INS-1E beta cells

21 January 2018

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The human glutamate dehydrogenase gene family: gene organization and structural characterization

21 January 2018

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Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome

21 January 2018

1 reference

Complete nucleotide sequence of human glutamate dehydrogenase cDNA

21 January 2018

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Studies of hepatic glutamine metabolism in the perfused rat liver with (15)N-labeled glutamine.

21 January 2018

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The glial glutamate transporter in hyperammonemia and hepatic encephalopathy: relation to energy metabolism and glutamatergic neurotransmission

21 January 2018

1 reference

The structure of bovine glutamate dehydrogenase provides insights into the mechanism of allostery

21 January 2018

1 reference

Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome

21 January 2018

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Low CSF GABA concentration in children with febrile convulsions, untreated epilepsy, and meningitis

21 January 2018

1 reference

N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication

21 January 2018

1 reference

Glutamic acid decarboxylase (GAD) in mammalian tissue outside the central nervous system, and its possible relevance to hereditary vitamin B6 dependency with seizures.

21 January 2018

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L-leucine and a nonmetabolized analogue activate pancreatic islet glutamate dehydrogenase

21 January 2018

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Stimulation of pancreatic islet metabolism and insulin release by a nonmetabolizable amino acid

21 January 2018

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Glutamate transport and metabolism in astrocytes

21 January 2018

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Abnormal platelet glutamate dehydrogenase activity and activation in dominant and nondominant olivopontocerebellar atrophy

21 January 2018

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Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

21 January 2018

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Human hepatic N-acetylglutamate content and N-acetylglutamate synthase activity. Determination by stable isotope dilution

21 January 2018

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Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications

21 January 2018

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A syndrome of congenital hyperinsulinism and hyperammonemia.

21 January 2018

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Inhibition of glutamine synthetase reduces ammonia-induced astrocyte swelling in rat

21 January 2018

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Glutamate dehydrogenase deficiency in spinocerebellar degenerations.

21 January 2018

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Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators

21 January 2018

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Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MRDD.1040

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2 August 2017

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