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Journal of Inherited Metabolic Disease
|
January 1, 1985
Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis
R B Schutgens, H S Heymans, R J Wanders, et al.
European Journal of Biochemistry
|
December 12, 1997
Transport of activated fatty acids by the peroxisomal ATP-binding-cassette transporter Pxa2 in a semi-intact yeast cell system
N Verleur, E H Hettema, C W van Roermund, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acid beta-oxidation intermediates on mitochondrial oxidative phosphorylation
F V Ventura, J P Ruiter, L Ijlst, et al.
FEBS Letters
|
March 9, 1992
Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts
J C Heikoop, B C Ossendorp, R J Wanders, et al.
American Journal of Human Genetics
|
August 12, 1999
PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders
Y Liu, J Björkman, A Urquhart, et al.
Advances in Experimental Medicine and Biology
|
March 10, 2000
Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency
IJx353L, J P Ruiter, W Oostheim, et al.
Progress in Clinical and Biological Research
|
January 1, 1990
Inborn errors of peroxisomal beta-oxidation: biochemical identification using enzymic and immunological methods
R J Wanders, C W van Roermund, A Schelen, et al.
European Journal of Pediatrics
|
October 17, 1998
Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
M Huemer, A Muehl, K Wandl-Vergesslich, et al.
Advances in Experimental Medicine and Biology
|
March 10, 2000
D-hydroxyacyl-CoA dehydrogenase deficiency. Identification of a new peroxisomal disorder with implications for other disorders of beta-oxidation
E G van Grunsven, E van Berkel, S Denis, et al.
Journal of Inherited Metabolic Disease
|
September 3, 1999
Spontaneous pregnancy in a patient with classical galactosaemia
S de Jongh, P Vreken, L IJst, et al.
Page
of 50
Search research articles
Search
Showing results (171-180 of 497) with videos related to
Sort By:
Page
of 50
Journal of Inherited Metabolic Disease
|
January 1, 1985
Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis
R B Schutgens, H S Heymans, R J Wanders, et al.
European Journal of Biochemistry
|
December 12, 1997
Transport of activated fatty acids by the peroxisomal ATP-binding-cassette transporter Pxa2 in a semi-intact yeast cell system
N Verleur, E H Hettema, C W van Roermund, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acid beta-oxidation intermediates on mitochondrial oxidative phosphorylation
F V Ventura, J P Ruiter, L Ijlst, et al.
FEBS Letters
|
March 9, 1992
Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts
J C Heikoop, B C Ossendorp, R J Wanders, et al.
American Journal of Human Genetics
|
August 12, 1999
PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders
Y Liu, J Björkman, A Urquhart, et al.
Advances in Experimental Medicine and Biology
|
March 10, 2000
Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency
IJx353L, J P Ruiter, W Oostheim, et al.
Progress in Clinical and Biological Research
|
January 1, 1990
Inborn errors of peroxisomal beta-oxidation: biochemical identification using enzymic and immunological methods
R J Wanders, C W van Roermund, A Schelen, et al.
European Journal of Pediatrics
|
October 17, 1998
Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
M Huemer, A Muehl, K Wandl-Vergesslich, et al.
Advances in Experimental Medicine and Biology
|
March 10, 2000
D-hydroxyacyl-CoA dehydrogenase deficiency. Identification of a new peroxisomal disorder with implications for other disorders of beta-oxidation
E G van Grunsven, E van Berkel, S Denis, et al.
Journal of Inherited Metabolic Disease
|
September 3, 1999
Spontaneous pregnancy in a patient with classical galactosaemia
S de Jongh, P Vreken, L IJst, et al.
Page
of 50