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Tijdschrift Voor Kindergeneeskunde
|
October 1, 1989
[X-linked adrenoleukodystrophy and other peroxisomal diseases caused by a failing peroxisomal beta-oxidation system: clinical expression, diagnosis and treatment]
R J Wanders, P G Barth, R B Schutgens, et al.
Human Genetics
|
June 21, 2001
Molecular and functional characterisation of mild MCAD deficiency
J Zschocke, A Schulze, M Lindner, et al.
Blood
|
August 1, 1987
Age-related deficiency of the synthesis of platelet activating factor by leukocytes from Zellweger patients
A Sturk, M C Schaap, A Prins, et al.
Journal of Lipid Research
|
December 10, 1997
A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria
N Casals, J Pié, C H Casale, et al.
The Journal of Cell Biology
|
October 1, 1995
Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1
A Motley, M J Lumb, P B Oatey, et al.
Biochimica Et Biophysica Acta
|
May 13, 1987
Studies on the peroxisomal oxidation of palmitate and lignocerate in rat liver
R J Wanders, C W van Roermund, M J van Wijland, et al.
Pediatric Neurology
|
April 1, 1996
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
R Pons, M Roig, E Riudor, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia
R J Wanders, C W van Roermund, M J van Wijland, et al.
Biochemical and Biophysical Research Communications
|
August 27, 1999
Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients
N Shimozawa, Z Zhang, Y Suzuki, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase
P G Barth, G F Hoffmann, J Jaeken, et al.
Page
of 50
Search research articles
Search
Showing results (391-400 of 497) with videos related to
Sort By:
Page
of 50
Tijdschrift Voor Kindergeneeskunde
|
October 1, 1989
[X-linked adrenoleukodystrophy and other peroxisomal diseases caused by a failing peroxisomal beta-oxidation system: clinical expression, diagnosis and treatment]
R J Wanders, P G Barth, R B Schutgens, et al.
Human Genetics
|
June 21, 2001
Molecular and functional characterisation of mild MCAD deficiency
J Zschocke, A Schulze, M Lindner, et al.
Blood
|
August 1, 1987
Age-related deficiency of the synthesis of platelet activating factor by leukocytes from Zellweger patients
A Sturk, M C Schaap, A Prins, et al.
Journal of Lipid Research
|
December 10, 1997
A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria
N Casals, J Pié, C H Casale, et al.
The Journal of Cell Biology
|
October 1, 1995
Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1
A Motley, M J Lumb, P B Oatey, et al.
Biochimica Et Biophysica Acta
|
May 13, 1987
Studies on the peroxisomal oxidation of palmitate and lignocerate in rat liver
R J Wanders, C W van Roermund, M J van Wijland, et al.
Pediatric Neurology
|
April 1, 1996
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
R Pons, M Roig, E Riudor, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia
R J Wanders, C W van Roermund, M J van Wijland, et al.
Biochemical and Biophysical Research Communications
|
August 27, 1999
Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients
N Shimozawa, Z Zhang, Y Suzuki, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase
P G Barth, G F Hoffmann, J Jaeken, et al.
Page
of 50