Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients

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Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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Clinical and Molecular Spectru ...... ital Hyperinsulinemia Patients

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Clinical and Molecular Spectru ...... ital Hyperinsulinemia Patients

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Clinical and Molecular Spectru ...... ital Hyperinsulinemia Patients

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Clinical and Molecular Spectru ...... ital Hyperinsulinemia Patients

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Clinical and Molecular Spectru ...... ital Hyperinsulinemia Patients

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Clinical and Molecular Spectru ...... ital Hyperinsulinemia Patients

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P1476

Clinical and Molecular Spectru ...... ital Hyperinsulinemia Patients

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P2093

Di Wu

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Jia-Jia Chen

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Miao Qin

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Min Liu

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Wen-Jing Li

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Xi Meng

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Xue-Jun Liang

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P2860

Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase

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

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

Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.

Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase

The hyperinsulinism/hyperammonemia syndrome.

Familial hypoglycemia precipitated by amino acids.

Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations.

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

P304

2802540

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scholarly article

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10.1155/2018/2802540

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English

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2018

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Bing-Yan Cao

C X Gong

Chang Su

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2018-09-16T00:00:00Z

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30306091

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P921

endocrinology

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6165593

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