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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
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PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure
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Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)
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Polymerase gamma deficiency (POLG): clinical course in a child with two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy
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JC-1-based fluorescence to evaluate oxidative phosphorylation defects generates both qualitative and quantitative information
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- Journal Article
- A2
- open access
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects