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List of works by Alfonso Oyarzabal

A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.

scientific article published on 12 December 2012

Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.

scientific article

Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

scientific article published on 14 January 2020

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

scientific article

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency

scientific article published on 01 August 2019

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

scientific article published on 10 December 2015

Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism.

scientific article published on 22 January 2016

Ndufs4 related Leigh syndrome: A case report and review of the literature.

scientific article published on 11 April 2016

Synaptic energy metabolism and neuronal excitability, in sickness and health

scientific article published on 01 March 2019

Thiamine transporter-2 deficiency: outcome and treatment monitoring

scientific article

Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients

scientific article

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