Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
We report two children, born from consanguineous parents, who presented with early-onset refractory epilepsy associated with psychomotor delay, failure to thrive, blindness and deafness. Polarographic and spectrophotometric analyses in fibroblasts and liver revealed a respiratory chain (RC) dysfunction. Surprisingly, we identified a homozygous nons...
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Full title
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3641379
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3641379
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ISSN
1018-4813,1476-5438
E-ISSN
1476-5438
DOI
10.1038/ejhg.2012.202
