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Journal of Inherited Metabolic Disease
|
January 1, 1989
3-Hydroxy-3-methylglutaryl-CoA-lyase deficiency
E Ploechl, C Bachmann, J P Colombo, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria
K M Gibson, G F Hoffmann, L Sweetman, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts
G Hoffmann, K M Gibson, W L Nyhan, et al.
Clinical Radiology
|
October 18, 2001
3D gadolinium-enhanced MRI venography: evaluation of central chest veins and impact on patient management
J W Oxtoby, E Widjaja, K M Gibson, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?
K M Gibson, W Craigen, G E Herman, et al.
American Journal of Human Genetics
|
July 1, 1984
Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts
O Sovik, L Sweetman, K M Gibson, et al.
Clinical Chemistry
|
February 1, 1992
Increased plasma amylase in the family of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
E Plöchl, J P Colombo, B Wermuth, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 15, 1989
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection
K Narisawa, K M Gibson, L Sweetman, et al.
Methods in Enzymology
|
September 16, 2000
Molecular and enzymatic methods for detection of genetic defects in distal pathways of branched-chain amino acid metabolism
K M Gibson, M Ugarte, T Fukao, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1985
Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts
K M Gibson, L Sweetman, W L Nyhan, et al.
Page
of 19
Search research articles
Search
Showing results (31-40 of 187) with videos related to
Sort By:
Page
of 19
Journal of Inherited Metabolic Disease
|
January 1, 1989
3-Hydroxy-3-methylglutaryl-CoA-lyase deficiency
E Ploechl, C Bachmann, J P Colombo, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria
K M Gibson, G F Hoffmann, L Sweetman, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts
G Hoffmann, K M Gibson, W L Nyhan, et al.
Clinical Radiology
|
October 18, 2001
3D gadolinium-enhanced MRI venography: evaluation of central chest veins and impact on patient management
J W Oxtoby, E Widjaja, K M Gibson, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?
K M Gibson, W Craigen, G E Herman, et al.
American Journal of Human Genetics
|
July 1, 1984
Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts
O Sovik, L Sweetman, K M Gibson, et al.
Clinical Chemistry
|
February 1, 1992
Increased plasma amylase in the family of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
E Plöchl, J P Colombo, B Wermuth, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 15, 1989
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection
K Narisawa, K M Gibson, L Sweetman, et al.
Methods in Enzymology
|
September 16, 2000
Molecular and enzymatic methods for detection of genetic defects in distal pathways of branched-chain amino acid metabolism
K M Gibson, M Ugarte, T Fukao, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1985
Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts
K M Gibson, L Sweetman, W L Nyhan, et al.
Page
of 19