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Panel-based nuclear and mitochondrial next-generation sequencing outcomes of an ethnically diverse pediatric patient cohort with mitochondrial disease
(Elsevier, 2019)
Mitochondrial disease (MD) is a group of rare inherited disorders with clinical heterogeneous phenotypes. Recent advances in next-generation sequencing (NGS) allow for rapid genetic diagnostics in patients who experience ...
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency
(Elsevier, 2018)
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal recessive disorder of the electron transfer flavoprotein function characterized by a severe clinical and biochemical phenotype, including ...
Novel mitochondrial and cytosolic purification pipeline for compartment-specific metabolomics in mammalian disease model tissues
(Springer, 2020)
Introduction
Mitochondria represent an important milieu for studying the pathogenesis of several major diseases. The need for organelle-level metabolic resolution exists, as mitochondrial/cytosolic metabolites are often ...