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D R Thorburn

Showing results (31-40 of 69) with videos related to

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Journal of Inherited Metabolic Disease|August 13, 1998
Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologiesA R Gregg, A W Warman, D R Thorburn, et al.
American Journal of Human Genetics|July 27, 1999
The molecular basis of malonyl-CoA decarboxylase deficiencyD R FitzPatrick, A Hill, J L Tolmie, et al.
Neuromuscular Disorders : NMD|February 24, 2012
A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutationsP McKelvie, R Marotta, D R Thorburn, et al.
Journal of Inherited Metabolic Disease|March 1, 1997
Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonateJ J Pitt, R Hawkins, M Cleary, et al.
Annals of Neurology|July 14, 2000
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated familiesD M Kirby, S G Kahler, M L Freckmann, et al.
Human Mutation|January 1, 1995
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiencyF Takakubo, D R Thorburn, R M Brown, et al.
The Journal of Pediatrics|March 27, 2007
Cardiac manifestations in oxidative phosphorylation disorders of childhoodJ Yaplito-Lee, R Weintraub, K Jamsen, et al.
Molecular Genetics and Metabolism|December 23, 1999
Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctataH H Dahl, A H Osborn, W M Hutchison, et al.
The Journal of Pediatrics|March 4, 1999
Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical featureD Mowat, D M Kirby, K R Kamath, et al.
Neurology|November 13, 2002
Diagnostic criteria for respiratory chain disorders in adults and childrenF P Bernier, A Boneh, X Dennett, et al.
Pageof 7

Showing results (31-40 of 69) with videos related to

Sort By:
Pageof 7
Journal of Inherited Metabolic Disease|August 13, 1998
Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologiesA R Gregg, A W Warman, D R Thorburn, et al.
American Journal of Human Genetics|July 27, 1999
The molecular basis of malonyl-CoA decarboxylase deficiencyD R FitzPatrick, A Hill, J L Tolmie, et al.
Neuromuscular Disorders : NMD|February 24, 2012
A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutationsP McKelvie, R Marotta, D R Thorburn, et al.
Journal of Inherited Metabolic Disease|March 1, 1997
Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonateJ J Pitt, R Hawkins, M Cleary, et al.
Annals of Neurology|July 14, 2000
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated familiesD M Kirby, S G Kahler, M L Freckmann, et al.
Human Mutation|January 1, 1995
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiencyF Takakubo, D R Thorburn, R M Brown, et al.
The Journal of Pediatrics|March 27, 2007
Cardiac manifestations in oxidative phosphorylation disorders of childhoodJ Yaplito-Lee, R Weintraub, K Jamsen, et al.
Molecular Genetics and Metabolism|December 23, 1999
Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctataH H Dahl, A H Osborn, W M Hutchison, et al.
The Journal of Pediatrics|March 4, 1999
Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical featureD Mowat, D M Kirby, K R Kamath, et al.
Neurology|November 13, 2002
Diagnostic criteria for respiratory chain disorders in adults and childrenF P Bernier, A Boneh, X Dennett, et al.
Pageof 7