Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.

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Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.

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2017年学术文章

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name

Genetic Screening of Selected ...... with Glutaric Aciduria Type I.

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Genetic Screening of Selected ...... with Glutaric Aciduria Type I.

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type

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label

Genetic Screening of Selected ...... with Glutaric Aciduria Type I.

@en

Genetic Screening of Selected ...... with Glutaric Aciduria Type I.

@nl

prefLabel

Genetic Screening of Selected ...... with Glutaric Aciduria Type I.

@en

Genetic Screening of Selected ...... with Glutaric Aciduria Type I.

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P1476

Genetic Screening of Selected ...... with Glutaric Aciduria Type I.

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A B Vedamurthy

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K S Devaraju

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Kruthika-Vinod Tp

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M Kamate

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Shaik Muntaj

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P2860

AutoDock Vina: Improving the speed and accuracy of docking with a new scoring function, efficient optimization, and multithreading

UCSF Chimera--a visualization system for exploratory research and analysis

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)

Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I

Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.

Diagnosis and management of glutaric aciduria type I--revised recommendations.

Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I.

Mutation analysis in glutaric aciduria type I.

Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.

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142-148

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scholarly article

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10.1055/S-0037-1599202

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2017-03-07T00:00:00Z

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28794906

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5548524

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