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Journal of Inherited Metabolic Disease
|
January 1, 1993
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction
H D Bakker, R J Wanders, R B Schutgens, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 1, 1994
Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cultured skin fibroblasts with hexanoyl-CoA as a competitive inhibitor to eliminate the contribution of medium-chain acyl-CoA dehydrogenase
K E Niezen-Koning, R J Wanders, G T Nagel, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition
|
July 1, 1994
A new peroxisomal disorder with fetal and neonatal adrenal insufficiency
C Vanhole, F de Zegher, P Casaer, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty acids but normal bile acids
H Mandel, M Berant, A Aizin, et al.
Journal of Immunological Methods
|
July 6, 1992
Production and characterisation of monoclonal antibodies against native and disassembled human catalase
E A Wiemer, R Ofman, E Middelkoop, et al.
Developmental Medicine and Child Neurology
|
September 6, 2000
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency)
L Sztriha, L I Al-Gazali, R J Wanders, et al.
Advances in Experimental Medicine and Biology
|
March 10, 2000
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease
G A Jansen, S Ferdinandusse, E M Hogenhout, et al.
Journal of Inherited Metabolic Disease
|
April 5, 2001
A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity
I Barić, V Sarnavka, K Fumić, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
January 1, 1995
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder
H Goez, D Meiron, J Horowitz, et al.
Biochimica Et Biophysica Acta
|
November 29, 1994
2-Hydroxyphytanic acid oxidase activity in rat and human liver and its deficiency in the Zellweger syndrome
R J Wanders, C W van Roermund, D S Schor, et al.
Page
of 50
Search research articles
Search
Showing results (211-220 of 497) with videos related to
Sort By:
Page
of 50
Journal of Inherited Metabolic Disease
|
January 1, 1993
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction
H D Bakker, R J Wanders, R B Schutgens, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 1, 1994
Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cultured skin fibroblasts with hexanoyl-CoA as a competitive inhibitor to eliminate the contribution of medium-chain acyl-CoA dehydrogenase
K E Niezen-Koning, R J Wanders, G T Nagel, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition
|
July 1, 1994
A new peroxisomal disorder with fetal and neonatal adrenal insufficiency
C Vanhole, F de Zegher, P Casaer, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty acids but normal bile acids
H Mandel, M Berant, A Aizin, et al.
Journal of Immunological Methods
|
July 6, 1992
Production and characterisation of monoclonal antibodies against native and disassembled human catalase
E A Wiemer, R Ofman, E Middelkoop, et al.
Developmental Medicine and Child Neurology
|
September 6, 2000
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency)
L Sztriha, L I Al-Gazali, R J Wanders, et al.
Advances in Experimental Medicine and Biology
|
March 10, 2000
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease
G A Jansen, S Ferdinandusse, E M Hogenhout, et al.
Journal of Inherited Metabolic Disease
|
April 5, 2001
A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity
I Barić, V Sarnavka, K Fumić, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
January 1, 1995
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder
H Goez, D Meiron, J Horowitz, et al.
Biochimica Et Biophysica Acta
|
November 29, 1994
2-Hydroxyphytanic acid oxidase activity in rat and human liver and its deficiency in the Zellweger syndrome
R J Wanders, C W van Roermund, D S Schor, et al.
Page
of 50