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Journal of Inherited Metabolic Disease
|
December 31, 1998
N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate
A A Morris, S W Richmond, S J Oddie, et al.
Journal of Inherited Metabolic Disease
|
August 13, 1998
Acylcarnitine analysis in the investigation of myopathy
S 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 thiolase
S Jackson, R S Kler, K Bartlett, et al.
The Journal of Clinical Investigation
|
October 1, 1992
Combined enzyme defect of mitochondrial fatty acid oxidation
S 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 deficiency
R 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 hypoglycaemia
A 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 II
N 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 oxidation
R 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 putamen
S 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 deficiency
S E Olpin, S Clark, B S Andresen, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 43) with videos related to
Sort By:
Page
of 5
Journal of Inherited Metabolic Disease
|
December 31, 1998
N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate
A A Morris, S W Richmond, S J Oddie, et al.
Journal of Inherited Metabolic Disease
|
August 13, 1998
Acylcarnitine analysis in the investigation of myopathy
S 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 thiolase
S Jackson, R S Kler, K Bartlett, et al.
The Journal of Clinical Investigation
|
October 1, 1992
Combined enzyme defect of mitochondrial fatty acid oxidation
S 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 deficiency
R 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 hypoglycaemia
A 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 II
N 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 oxidation
R 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 putamen
S 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 deficiency
S E Olpin, S Clark, B S Andresen, et al.
Page
of 5