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D R Thorburn

Showing results (21-30 of 69) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1993
A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiencyD R Thorburn, G N Thompson, D W Howells
Journal of Inherited Metabolic Disease|February 24, 2001
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosisK H Carpente, B Wilcken, J Christodoulou, et al.
Journal of Genetic Counseling|February 13, 2008
Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected childA C Sexton, M Sahhar, D R Thorburn, et al.
Lancet (London, England)|May 18, 2001
Fatal portal hypertension, liver failure, and mitochondrial dysfunction after HIV-1 nucleoside analogue-induced hepatitis and lactic acidaemiaA Carr, A Morey, P Mallon, et al.
American Journal of Human Genetics|June 1, 1997
Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytesR B Blok, D A Gook, D R Thorburn, et al.
European Journal of Biochemistry|March 15, 1989
Comparison of computer simulations of the F-type and L-type non-oxidative hexose monophosphate shunts with 31P-NMR experimental data from human erythrocytesL M McIntyre, D R Thorburn, W A Bubb, et al.
European Journal of Pediatrics|May 1, 1997
A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathyS Yano, L Sweetman, D R Thorburn, et al.
Neuropediatrics|September 3, 2005
The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain diseaseJ Panetta, K Gibson, D M Kirby, et al.
Human Genetics|January 1, 1995
A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletionR B Blok, D R Thorburn, G N Thompson, et al.
Biochemical and Molecular Medicine|October 1, 1995
mtDNA deletion in a patient with symptoms of mitochondrial cytopathy but without ragged red fibersR B Blok, D R Thorburn, D M Danks, et al.
Pageof 7

Showing results (21-30 of 69) with videos related to

Sort By:
Pageof 7
Journal of Inherited Metabolic Disease|January 1, 1993
A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiencyD R Thorburn, G N Thompson, D W Howells
Journal of Inherited Metabolic Disease|February 24, 2001
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosisK H Carpente, B Wilcken, J Christodoulou, et al.
Journal of Genetic Counseling|February 13, 2008
Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected childA C Sexton, M Sahhar, D R Thorburn, et al.
Lancet (London, England)|May 18, 2001
Fatal portal hypertension, liver failure, and mitochondrial dysfunction after HIV-1 nucleoside analogue-induced hepatitis and lactic acidaemiaA Carr, A Morey, P Mallon, et al.
American Journal of Human Genetics|June 1, 1997
Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytesR B Blok, D A Gook, D R Thorburn, et al.
European Journal of Biochemistry|March 15, 1989
Comparison of computer simulations of the F-type and L-type non-oxidative hexose monophosphate shunts with 31P-NMR experimental data from human erythrocytesL M McIntyre, D R Thorburn, W A Bubb, et al.
European Journal of Pediatrics|May 1, 1997
A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathyS Yano, L Sweetman, D R Thorburn, et al.
Neuropediatrics|September 3, 2005
The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain diseaseJ Panetta, K Gibson, D M Kirby, et al.
Human Genetics|January 1, 1995
A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletionR B Blok, D R Thorburn, G N Thompson, et al.
Biochemical and Molecular Medicine|October 1, 1995
mtDNA deletion in a patient with symptoms of mitochondrial cytopathy but without ragged red fibersR B Blok, D R Thorburn, D M Danks, et al.
Pageof 7