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Tony Rupar Selected Research

Mitochondrial Diseases (Mitochondrial Disease)

1/2021Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population.

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Tony Rupar Research Topics

Disease

1Mitochondrial Diseases (Mitochondrial Disease)
01/2021
1Failure to Thrive
12/2015
1Pancytopenia
12/2015
1Diarrhea
12/2015
1Vomiting
12/2015
1Metachromatic Leukodystrophy (Sulfatide Lipidosis)
12/2011
1Epilepsy (Aura)
11/2011
1Pyruvate Dehydrogenase Complex Deficiency Disease
11/2011
1Dystonia (Limb Dystonia)
02/2011
1Methylmalonic acidemia
04/2009
1Homocystinuria
04/2009
1Mucopolysaccharidoses
08/2008
1B BH4-Deficient Hyperphenylalaninemia
05/2008

Drug/Important Bio-Agent (IBA)

1Mitochondrial DNA (mtDNA)IBA
01/2021
1Transcobalamins (Transcobalamin II)IBA
12/2015
1seminolipidIBA
12/2011
1Peptides (Polypeptides)IBA
11/2011
1Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA
11/2011
1Neurotransmitter Agents (Neurotransmitter)IBA
11/2011
1glutaric acidIBA
02/2011
13-hydroxyglutaric acidIBA
02/2011
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
04/2009
1Proteins (Proteins, Gene)FDA Link
04/2009
1GlycosaminoglycansIBA
08/2008
1Heparin Cofactor IIIBA
08/2008
1Biomarkers (Surrogate Marker)IBA
08/2008
1ThrombinFDA Link
08/2008
1GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA
05/2008