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R J Wanders

Showing results (441-450 of 497) with videos related to

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European Journal of Biochemistry|June 24, 2000
Phytanoyl-CoA hydroxylase activity is induced by phytanic acidA W Zomer, G A Jansen, B Van Der Burg, et al.
European Journal of Pediatrics|August 1, 1986
Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteinsR J Wanders, R B Schutgens, G Schrakamp, et al.
American Journal of Human Genetics|April 16, 1998
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41QG A Mitchell, P T Ozand, M F Robert, et al.
European Journal of Pediatrics|December 10, 1997
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literatureK E Niezen-Koning, R J Wanders, J P Ruiter, et al.
Human Genetics|September 10, 1999
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiencyF M Vaz, H R Scholte, J Ruiter, et al.
The American Journal of Pathology|December 1, 1986
Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophyJ Vamecq, J P Draye, F Van Hoof, et al.
Nature Genetics|November 5, 1997
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase geneG A Jansen, R Ofman, S Ferdinandusse, et al.
Biochimica Et Biophysica Acta|April 12, 1997
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiencyX Q Song, T Fukao, G A Mitchell, et al.
Annals of Neurology|January 13, 2000
Atypical refsum disease with pipecolic acidemia and abnormal catalase distributionM R Baumgartner, G A Jansen, N M Verhoeven, et al.
Journal of Child Neurology|November 26, 1999
Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicismM Pineda, M Girós, F Roels, et al.
Pageof 50

Showing results (441-450 of 497) with videos related to

Sort By:
Pageof 50
European Journal of Biochemistry|June 24, 2000
Phytanoyl-CoA hydroxylase activity is induced by phytanic acidA W Zomer, G A Jansen, B Van Der Burg, et al.
European Journal of Pediatrics|August 1, 1986
Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteinsR J Wanders, R B Schutgens, G Schrakamp, et al.
American Journal of Human Genetics|April 16, 1998
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41QG A Mitchell, P T Ozand, M F Robert, et al.
European Journal of Pediatrics|December 10, 1997
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literatureK E Niezen-Koning, R J Wanders, J P Ruiter, et al.
Human Genetics|September 10, 1999
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiencyF M Vaz, H R Scholte, J Ruiter, et al.
The American Journal of Pathology|December 1, 1986
Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophyJ Vamecq, J P Draye, F Van Hoof, et al.
Nature Genetics|November 5, 1997
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase geneG A Jansen, R Ofman, S Ferdinandusse, et al.
Biochimica Et Biophysica Acta|April 12, 1997
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiencyX Q Song, T Fukao, G A Mitchell, et al.
Annals of Neurology|January 13, 2000
Atypical refsum disease with pipecolic acidemia and abnormal catalase distributionM R Baumgartner, G A Jansen, N M Verhoeven, et al.
Journal of Child Neurology|November 26, 1999
Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicismM Pineda, M Girós, F Roels, et al.
Pageof 50