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Search Results to Annette Feigenbaum

This is a "connection" page, showing the details of why an item matched the keywords from your search.

                     
                     

One or more keywords matched the following items that are connected to Feigenbaum, Annette

Item TypeName
Concept Pyruvate Dehydrogenase Complex Deficiency Disease
Concept NADH Dehydrogenase
Concept Pyruvate Dehydrogenase Complex
Concept Acyl-CoA Dehydrogenase, Long-Chain
Concept NAD(P)H Dehydrogenase (Quinone)
Concept Aldehyde Dehydrogenase
Concept Dihydrolipoamide Dehydrogenase
Concept Acyl-CoA Dehydrogenase
Concept Oxidoreductases
Concept Pyruvate Dehydrogenase (Lipoamide)-Phosphatase
Concept Isocitrate Dehydrogenase
Academic Article Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.
Academic Article Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.
Academic Article Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.
Academic Article The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
Academic Article Late-onset cobalamin-C disorder: a challenging diagnosis.
Academic Article Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.
Academic Article Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.
Academic Article IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
Academic Article The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements.
Academic Article NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings.
Academic Article Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
Academic Article A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
Academic Article Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.
Academic Article Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.

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  • Oxidoreductases