Search research articles
Contact Us
Filters
Showing results (271-280 of 497) with videos related to
Page
of 50
Sort By:
Journal of Inherited Metabolic Disease
|
January 1, 1993
Peroxisomal disorders: concentrations of metabolites in cerebrospinal fluid compared with plasma
H J ten Brink, C M van den Heuvel, B T Poll-The, et al.
Biochemical and Biophysical Research Communications
|
December 19, 2000
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome
P Vreken, F Valianpour, L G Nijtmans, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
L-2-hydroxyglutaric aciduria and lactic acidosis
P G Barth, R J Wanders, H R Scholte, et al.
Journal of Inherited Metabolic Disease
|
June 29, 1999
Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects
P Vreken, A E van Lint, A H Bootsma, et al.
Journal of Inherited Metabolic Disease
|
July 17, 1999
Disorders of mitochondrial fatty acyl-CoA beta-oxidation
R J Wanders, P Vreken, M E den Boer, et al.
Human Mutation
|
January 1, 1995
Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency
T Fukao, X Q Song, S Yamaguchi, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
March 31, 1990
[Zellweger syndrome and other peroxisomal disorders: II. (Bio)chemical characteristics of a recently discovered group of diseases]
R J Wanders, H S Heymans, R B Schutgens, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts
R J Wanders, S Denis, J P Ruiter, et al.
Neuropediatrics
|
August 1, 1996
Cerebellar hypoplasia in respiratory chain dysfunction
C R Lincke, C van den Bogert, L G Nijtmans, et al.
Biochemical and Biophysical Research Communications
|
December 4, 1996
Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans
G A Jansen, S J Mihalik, P A Watkins, et al.
Page
of 50
Search research articles
Search
Showing results (271-280 of 497) with videos related to
Sort By:
Page
of 50
Journal of Inherited Metabolic Disease
|
January 1, 1993
Peroxisomal disorders: concentrations of metabolites in cerebrospinal fluid compared with plasma
H J ten Brink, C M van den Heuvel, B T Poll-The, et al.
Biochemical and Biophysical Research Communications
|
December 19, 2000
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome
P Vreken, F Valianpour, L G Nijtmans, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
L-2-hydroxyglutaric aciduria and lactic acidosis
P G Barth, R J Wanders, H R Scholte, et al.
Journal of Inherited Metabolic Disease
|
June 29, 1999
Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects
P Vreken, A E van Lint, A H Bootsma, et al.
Journal of Inherited Metabolic Disease
|
July 17, 1999
Disorders of mitochondrial fatty acyl-CoA beta-oxidation
R J Wanders, P Vreken, M E den Boer, et al.
Human Mutation
|
January 1, 1995
Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency
T Fukao, X Q Song, S Yamaguchi, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
March 31, 1990
[Zellweger syndrome and other peroxisomal disorders: II. (Bio)chemical characteristics of a recently discovered group of diseases]
R J Wanders, H S Heymans, R B Schutgens, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts
R J Wanders, S Denis, J P Ruiter, et al.
Neuropediatrics
|
August 1, 1996
Cerebellar hypoplasia in respiratory chain dysfunction
C R Lincke, C van den Bogert, L G Nijtmans, et al.
Biochemical and Biophysical Research Communications
|
December 4, 1996
Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans
G A Jansen, S J Mihalik, P A Watkins, et al.
Page
of 50