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Journal of Inherited Metabolic Disease
|
January 26, 2006
Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism
M M C Wamelink, D E C Smith, C Jakobs, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2000
Phytanic acid alpha-oxidation in man: identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome
G A Jansen, S Denis, N M Verhoeven, et al.
Neuropediatrics
|
April 29, 1998
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism
K M Gibson, G F Hoffmann, A K Hodson, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 8, 1980
3-methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
C Jakobs, M Bojasch, M Duran, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
H Przyrembel, C Jakobs, L IJlst, et al.
Clinical Chemistry
|
March 10, 2001
Development of a stable-isotope dilution assay for gamma-aminobutyric acid (GABA) transaminase in isolated leukocytes and evidence that GABA and beta-alanine transaminases are identical
D S Schor, E A Struys, B M Hogema, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
Plasma polyol levels in patients with cataract
C Jakobs, A C Douwes, M Brockstedt, et al.
Pediatric Research
|
November 1, 1984
Identification of methyl-branched chain dicarboxylic acids in amniotic fluid and urine in propionic and methylmalonic acidemia
C Jakobs, L Dorland, L Sweetman, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency
H J ten Brink, R J Wanders, F Stellaard, et al.
Genomics
|
June 1, 1997
Structure of the human type I iodothyronine 5'-deiodinase gene and localization to chromosome 1p32-p33
T C Jakobs, M R Koehler, C Schmutzler, et al.
Page
of 42
Search research articles
Search
Showing results (121-130 of 417) with videos related to
Sort By:
Page
of 42
Journal of Inherited Metabolic Disease
|
January 26, 2006
Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism
M M C Wamelink, D E C Smith, C Jakobs, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2000
Phytanic acid alpha-oxidation in man: identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome
G A Jansen, S Denis, N M Verhoeven, et al.
Neuropediatrics
|
April 29, 1998
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism
K M Gibson, G F Hoffmann, A K Hodson, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 8, 1980
3-methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
C Jakobs, M Bojasch, M Duran, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
H Przyrembel, C Jakobs, L IJlst, et al.
Clinical Chemistry
|
March 10, 2001
Development of a stable-isotope dilution assay for gamma-aminobutyric acid (GABA) transaminase in isolated leukocytes and evidence that GABA and beta-alanine transaminases are identical
D S Schor, E A Struys, B M Hogema, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
Plasma polyol levels in patients with cataract
C Jakobs, A C Douwes, M Brockstedt, et al.
Pediatric Research
|
November 1, 1984
Identification of methyl-branched chain dicarboxylic acids in amniotic fluid and urine in propionic and methylmalonic acidemia
C Jakobs, L Dorland, L Sweetman, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency
H J ten Brink, R J Wanders, F Stellaard, et al.
Genomics
|
June 1, 1997
Structure of the human type I iodothyronine 5'-deiodinase gene and localization to chromosome 1p32-p33
T C Jakobs, M R Koehler, C Schmutzler, et al.
Page
of 42