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Journal of Child Neurology
|
September 1, 1996
Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease
M Topçu, G Erdem, I Saatçi, 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.
The EMBO Journal
|
March 14, 1998
Peroxisomal beta-oxidation of polyunsaturated fatty acids in Saccharomyces cerevisiae: isocitrate dehydrogenase provides NADPH for reduction of double bonds at even positions
C W van Roermund, E H Hettema, A J Kal, et al.
Biochemical and Biophysical Research Communications
|
July 15, 1988
Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndrome
R J Wanders, G J Romeyn, C W van Roermund, et al.
The Biochemical Journal
|
March 23, 1999
High-affinity binding of very-long-chain fatty acyl-CoA esters to the peroxisomal non-specific lipid-transfer protein (sterol carrier protein-2)
T B Dansen, J Westerman, F S Wouters, et al.
Annals of the New York Academy of Sciences
|
December 27, 1996
Long survival in a case of peroxisomal biogenesis disorder with peroxisome mosaicism in the liver
M Girós, F Roels, J Prats, et al.
European Journal of Pediatrics
|
December 1, 1996
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings
H Hebestreit, R J Wanders, R B Schutgens, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells
R J Wanders, R Ofman, G J Romeijn, et al.
Biochimica Et Biophysica Acta
|
October 21, 1991
Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group
E A Wiemer, M Out, A Schelen, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 1, 1986
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease
A W Schram, A Strijland, T Hashimoto, et al.
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of 50
Search research articles
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Showing results (311-320 of 497) with videos related to
Sort By:
Page
of 50
Journal of Child Neurology
|
September 1, 1996
Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease
M Topçu, G Erdem, I Saatçi, 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.
The EMBO Journal
|
March 14, 1998
Peroxisomal beta-oxidation of polyunsaturated fatty acids in Saccharomyces cerevisiae: isocitrate dehydrogenase provides NADPH for reduction of double bonds at even positions
C W van Roermund, E H Hettema, A J Kal, et al.
Biochemical and Biophysical Research Communications
|
July 15, 1988
Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndrome
R J Wanders, G J Romeyn, C W van Roermund, et al.
The Biochemical Journal
|
March 23, 1999
High-affinity binding of very-long-chain fatty acyl-CoA esters to the peroxisomal non-specific lipid-transfer protein (sterol carrier protein-2)
T B Dansen, J Westerman, F S Wouters, et al.
Annals of the New York Academy of Sciences
|
December 27, 1996
Long survival in a case of peroxisomal biogenesis disorder with peroxisome mosaicism in the liver
M Girós, F Roels, J Prats, et al.
European Journal of Pediatrics
|
December 1, 1996
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings
H Hebestreit, R J Wanders, R B Schutgens, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells
R J Wanders, R Ofman, G J Romeijn, et al.
Biochimica Et Biophysica Acta
|
October 21, 1991
Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group
E A Wiemer, M Out, A Schelen, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 1, 1986
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease
A W Schram, A Strijland, T Hashimoto, et al.
Page
of 50