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M Pourfarzam

Showing results (31-40 of 43) with videos related to

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Journal of Inherited Metabolic Disease|December 31, 1998
N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamateA A Morris, S W Richmond, S J Oddie, et al.
Journal of Inherited Metabolic Disease|August 13, 1998
Acylcarnitine analysis in the investigation of myopathyS J Moore, N E Haites, I Broom, et al.
Progress in Clinical and Biological Research|January 1, 1992
Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolaseS Jackson, R S Kler, K Bartlett, et al.
The Journal of Clinical Investigation|October 1, 1992
Combined enzyme defect of mitochondrial fatty acid oxidationS Jackson, R S Kler, K Bartlett, et al.
Journal of Inherited Metabolic Disease|January 27, 2005
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiencyR K J Olsen, M Pourfarzam, A A M Morris, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemiaA A Morris, S Deshphande, M P Ward-Platt, et al.
Journal of Inherited Metabolic Disease|March 10, 1999
Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type IIN J Manning, J R Bonham, M Downing, et al.
The Journal of Biological Chemistry|December 5, 1991
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidationR S Kler, S Jackson, K Bartlett, et al.
Neuropediatrics|November 5, 2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamenS Kölker, G F Hoffmann, D S M Schor, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiencyS E Olpin, S Clark, B S Andresen, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Journal of Inherited Metabolic Disease|December 31, 1998
N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamateA A Morris, S W Richmond, S J Oddie, et al.
Journal of Inherited Metabolic Disease|August 13, 1998
Acylcarnitine analysis in the investigation of myopathyS J Moore, N E Haites, I Broom, et al.
Progress in Clinical and Biological Research|January 1, 1992
Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolaseS Jackson, R S Kler, K Bartlett, et al.
The Journal of Clinical Investigation|October 1, 1992
Combined enzyme defect of mitochondrial fatty acid oxidationS Jackson, R S Kler, K Bartlett, et al.
Journal of Inherited Metabolic Disease|January 27, 2005
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiencyR K J Olsen, M Pourfarzam, A A M Morris, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemiaA A Morris, S Deshphande, M P Ward-Platt, et al.
Journal of Inherited Metabolic Disease|March 10, 1999
Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type IIN J Manning, J R Bonham, M Downing, et al.
The Journal of Biological Chemistry|December 5, 1991
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidationR S Kler, S Jackson, K Bartlett, et al.
Neuropediatrics|November 5, 2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamenS Kölker, G F Hoffmann, D S M Schor, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiencyS E Olpin, S Clark, B S Andresen, et al.
Pageof 5