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Publications by R. Laframboise

Pyruvate Dehydrogenase Deficiency Presenting as Intermittent Isolated Acute Ataxia

Neuropediatrics

English

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Pyruvate Dehydrogenase Deficiency.

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Friedreich's Ataxia Presenting as an Isolated Spastic Paraparesis

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Pyruvate Dehydrogenase Complex and Lactate Dehydrogenase as Targets for Therapy of Acute Liver Failure.

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Unilateral Periventricular Leukomalacia in Association With Pyruvate Dehydrogenase Deficiency

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Pyruvate Dehydrogenase Complex Deficiency Is Linked to Regulatory Loop Disorder in the αV138M Variant of Human Pyruvate Dehydrogenase

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A Mutation in the E1α Subunit of Pyruvate Dehydrogenase Associated With Variable Expression of Pyruvate Dehydrogenase Complex Deficiency

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Cerebellar Ataxia as Presenting Feature of Hypothyroidism

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Diabetes Mellitus as the Presenting Feature of Friedreich's Ataxia

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Bioelectrocatalysis of Pyruvate With PQQ-dependent Pyruvate Dehydrogenase

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