Central nervous system malformations in ethylmalonic encephalopathy
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference24 articles.
1. Structural anomalies in patients with inherited metabolic diseases
2. Pyruvate dehydrogenase E1α deficiency
3. New clinical phenotype of branched-chain acyl-CoA oxidation defect
4. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts
Cited by 24 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype;Neurological Sciences;2023-07-17
2. Ethylmalonic acid impairs bioenergetics by disturbing succinate and glutamate oxidation and induces mitochondrial permeability transition pore opening in rat cerebellum;Journal of Neurochemistry;2021-04-28
3. Evidence that thiol group modification and reactive oxygen species are involved in hydrogen sulfide-induced mitochondrial permeability transition pore opening in rat cerebellum;Mitochondrion;2019-07
4. Neuroimaging Findings in Primary Mitochondrial Cytopathies;Diagnosis and Management of Mitochondrial Disorders;2019
5. Bioenergetics dysfunction, mitochondrial permeability transition pore opening and lipid peroxidation induced by hydrogen sulfide as relevant pathomechanisms underlying the neurological dysfunction characteristic of ethylmalonic encephalopathy;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2017-09
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