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R J Wanders

Showing results (351-360 of 497) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1994
Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyK M Gibson, S B Cassidy, L H Seaver, et al.
The Journal of Clinical Investigation|September 17, 1998
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlationJ A Ibdah, I Tein, C Dionisi-Vici, et al.
Journal of the Neurological Sciences|February 1, 1987
Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal beta-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblastsR J Wanders, R B Schutgens, G Schrakamp, et al.
Biochimica Et Biophysica Acta|March 24, 1993
Differentiation and proliferation of respiration-deficient human myoblastsN H Herzberg, R Zwart, R A Wolterman, et al.
Human Mutation|May 2, 2000
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skippingH Watanabe, K E Orii, T Fukao, et al.
Saudi Medical Journal|December 18, 2001
Carnitine palmityl transferase I deficiencyA I Al-Aqeel, M S Rashed, J P Ruiter, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activitiesR J Wanders, C W van Roermund, A Schelen, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assemblyY Matsuzono, N Kinoshita, S Tamura, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|May 29, 1999
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidationM J Bennett, S D Spotswood, K F Ross, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
X-linked adrenoleukodystrophy: biochemical diagnosis and enzyme defectR J Wanders, C W van Roermund, W Lageweg, et al.
Pageof 50

Showing results (351-360 of 497) with videos related to

Sort By:
Pageof 50
Journal of Inherited Metabolic Disease|January 1, 1994
Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyK M Gibson, S B Cassidy, L H Seaver, et al.
The Journal of Clinical Investigation|September 17, 1998
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlationJ A Ibdah, I Tein, C Dionisi-Vici, et al.
Journal of the Neurological Sciences|February 1, 1987
Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal beta-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblastsR J Wanders, R B Schutgens, G Schrakamp, et al.
Biochimica Et Biophysica Acta|March 24, 1993
Differentiation and proliferation of respiration-deficient human myoblastsN H Herzberg, R Zwart, R A Wolterman, et al.
Human Mutation|May 2, 2000
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skippingH Watanabe, K E Orii, T Fukao, et al.
Saudi Medical Journal|December 18, 2001
Carnitine palmityl transferase I deficiencyA I Al-Aqeel, M S Rashed, J P Ruiter, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activitiesR J Wanders, C W van Roermund, A Schelen, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assemblyY Matsuzono, N Kinoshita, S Tamura, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|May 29, 1999
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidationM J Bennett, S D Spotswood, K F Ross, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
X-linked adrenoleukodystrophy: biochemical diagnosis and enzyme defectR J Wanders, C W van Roermund, W Lageweg, et al.
Pageof 50