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Journal of Inherited Metabolic Disease
|
January 1, 1991
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients
R J Wanders, L Ijlst, M Duran, et al.
Molecular Genetics and Metabolism
|
March 6, 2007
A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal
L S Almeida, L Vilarinho, P S Darmin, et al.
Biochemical and Biophysical Research Communications
|
October 30, 1990
Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome
R J Wanders, H J ten Brink, C W van Roermund, et al.
Pediatric Neurology
|
February 1, 1994
D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction
W J Craigen, C Jakobs, E A Sekul, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata
G A Jansen, S J Mihalik, P A Watkins, et al.
Alcoholism, Clinical and Experimental Research
|
May 18, 2005
Kinetics of homocysteine metabolism after moderate alcohol consumption
Joline W J Beulens, Aafje Sierksma, Gertjan Schaafsma, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
January 27, 1999
An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
E A Struys, E E Jansen, H J ten Brink, et al.
Enzyme
|
January 1, 1987
Hyperketotic states due to inherited defects of ketolysis
J M Saudubray, N Specola, B Middleton, et al.
Journal of Lipid Research
|
January 30, 1999
Analysis of pristanic acid beta-oxidation intermediates in plasma from healthy controls and patients affected with peroxisomal disorders by stable isotope dilution gas chromatography mass spectrometry
N M Verhoeven, D S Schor, E A Struys, et al.
Neurochemistry International
|
February 17, 2007
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice)
S W Sauer, S Kölker, G F Hoffmann, et al.
Page
of 42
Search research articles
Search
Showing results (281-290 of 417) with videos related to
Sort By:
Page
of 42
Journal of Inherited Metabolic Disease
|
January 1, 1991
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients
R J Wanders, L Ijlst, M Duran, et al.
Molecular Genetics and Metabolism
|
March 6, 2007
A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal
L S Almeida, L Vilarinho, P S Darmin, et al.
Biochemical and Biophysical Research Communications
|
October 30, 1990
Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome
R J Wanders, H J ten Brink, C W van Roermund, et al.
Pediatric Neurology
|
February 1, 1994
D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction
W J Craigen, C Jakobs, E A Sekul, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata
G A Jansen, S J Mihalik, P A Watkins, et al.
Alcoholism, Clinical and Experimental Research
|
May 18, 2005
Kinetics of homocysteine metabolism after moderate alcohol consumption
Joline W J Beulens, Aafje Sierksma, Gertjan Schaafsma, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
January 27, 1999
An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
E A Struys, E E Jansen, H J ten Brink, et al.
Enzyme
|
January 1, 1987
Hyperketotic states due to inherited defects of ketolysis
J M Saudubray, N Specola, B Middleton, et al.
Journal of Lipid Research
|
January 30, 1999
Analysis of pristanic acid beta-oxidation intermediates in plasma from healthy controls and patients affected with peroxisomal disorders by stable isotope dilution gas chromatography mass spectrometry
N M Verhoeven, D S Schor, E A Struys, et al.
Neurochemistry International
|
February 17, 2007
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice)
S W Sauer, S Kölker, G F Hoffmann, et al.
Page
of 42