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D R Thorburn

Showing results (41-50 of 69) with videos related to

Pageof 7
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Neurology|April 24, 1999
Respiratory chain complex I deficiency: an underdiagnosed energy generation disorderD M Kirby, M Crawford, M A Cleary, et al.
American Journal of Human Genetics|October 1, 1995
An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor proteinF Takakubo, P Cartwright, N Hoogenraad, et al.
Human Mutation|September 5, 2003
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiencyP J Wightman, R Santer, A Ribes, et al.
Archives of Disease in Childhood|October 1, 1993
Malonyl coenzyme A decarboxylase deficiencyG B MacPhee, R W Logan, J S Mitchell, et al.
Prenatal Diagnosis|December 11, 1999
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNAS L White, S Shanske, I Biros, et al.
Biomedica Biochimica Acta|January 1, 1984
Monitoring metabolic reactions in erythrocytes using NMR spectroscopyP W Kuchel, B E Chapman, Z H Endre, et al.
Annals of Neurology|May 13, 1999
Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxiaM B Delatycki, J Camakaris, H Brooks, et al.
Biochimica Et Biophysica Acta|October 12, 1984
The relationship between glucose concentration and rate of lactate production by human erythrocytes in an open perfusion systemP W Kuchel, B E Chapman, V A Lovric, et al.
Journal of Inherited Metabolic Disease|January 1, 1994
A novel mtDNA deletion in an infant with Pearson syndromeR Kapsa, G N Thompson, D R Thorburn, et al.
Biomedica Biochimica Acta|January 1, 1990
13C and 31P NMR studies of the pentose phosphate pathway in human erythrocytesP W Kuchel, H A Berthon, W A Bubb, et al.
Pageof 7

Showing results (41-50 of 69) with videos related to

Sort By:
Pageof 7
Neurology|April 24, 1999
Respiratory chain complex I deficiency: an underdiagnosed energy generation disorderD M Kirby, M Crawford, M A Cleary, et al.
American Journal of Human Genetics|October 1, 1995
An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor proteinF Takakubo, P Cartwright, N Hoogenraad, et al.
Human Mutation|September 5, 2003
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiencyP J Wightman, R Santer, A Ribes, et al.
Archives of Disease in Childhood|October 1, 1993
Malonyl coenzyme A decarboxylase deficiencyG B MacPhee, R W Logan, J S Mitchell, et al.
Prenatal Diagnosis|December 11, 1999
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNAS L White, S Shanske, I Biros, et al.
Biomedica Biochimica Acta|January 1, 1984
Monitoring metabolic reactions in erythrocytes using NMR spectroscopyP W Kuchel, B E Chapman, Z H Endre, et al.
Annals of Neurology|May 13, 1999
Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxiaM B Delatycki, J Camakaris, H Brooks, et al.
Biochimica Et Biophysica Acta|October 12, 1984
The relationship between glucose concentration and rate of lactate production by human erythrocytes in an open perfusion systemP W Kuchel, B E Chapman, V A Lovric, et al.
Journal of Inherited Metabolic Disease|January 1, 1994
A novel mtDNA deletion in an infant with Pearson syndromeR Kapsa, G N Thompson, D R Thorburn, et al.
Biomedica Biochimica Acta|January 1, 1990
13C and 31P NMR studies of the pentose phosphate pathway in human erythrocytesP W Kuchel, H A Berthon, W A Bubb, et al.
Pageof 7