A challenging interplay between basic research, technologies and medical education to provide therapies based on disease mechanisms-Reference-Cited by-同舟云学术

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A challenging interplay between basic research, technologies and medical education to provide therapies based on disease mechanisms

Published:2024-08-20 Issue: Volume:11 Page:
ISSN:2296-858X
Container-title:Frontiers in Medicine
language:
Short-container-title:Front. Med.

Author:

Bunik Victoria I.

Publisher

Frontiers Media SA

Reference25 articles.

1. The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders;Sperl;J Inherit Metab Dis.,2015

2. Mutations of the E1beta subunit gene (pdhb) in four families with pyruvate dehydrogenase deficiency;Okajima;Mol Genet Metab.,2008

3. Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of portuguese patients;Pavlu-Pereira;Orphanet J Rare Dis.,2020

4. Pyruvate dehydrogenase-E1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation;Singhi;JIMD Rep.,2013

5. Charcot-marie-tooth disease causing mutation (PR158h) in pyruvate dehydrogenase kinase 3 (Pdk3) affects synaptic transmission, atp production and causes neurodegeneration in a Cmtx6 C elegans model;Narayanan;Hum Mol Genet.,2021

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