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R A Wevers

Showing results (191-200 of 222) with videos related to

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Journal of Inherited Metabolic Disease|July 17, 1999
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)R A Wevers, J F de Rijk-van Andel, C Bräutigam, et al.
American Journal of Human Genetics|July 31, 1998
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase geneH R Waterham, F A Wijburg, R C Hennekam, et al.
Neurology|May 12, 2004
Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSFN I Wolf, M A A P Willemsen, U F Engelke, et al.
Journal of Medical Genetics|December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalisJ M van de Kamp, D J Lefeber, G J G Ruijter, et al.
Human Mutation|January 1, 1997
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic valueR G Boot, C E Hollak, M Verhoek, et al.
Neuropediatrics|March 17, 2006
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiencyB Assmann, G Göhlich, M Baethmann, et al.
Neurology|January 27, 2010
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseasesF Mochel, U F H Engelke, J Barritault, et al.
Brain : a Journal of Neurology|August 4, 1999
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosisA Verrips, G J Nijeholt, F Barkhof, et al.
Magnetic Resonance in Medicine|October 25, 2001
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urineS H Moolenaar, G Göhlich-Ratmann, U F Engelke, et al.
Journal of Inherited Metabolic Disease|January 26, 2006
External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot studyG J G Ruijter, M Boer, C W Weykamp, et al.
Pageof 23

Showing results (191-200 of 222) with videos related to

Sort By:
Pageof 23
Journal of Inherited Metabolic Disease|July 17, 1999
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)R A Wevers, J F de Rijk-van Andel, C Bräutigam, et al.
American Journal of Human Genetics|July 31, 1998
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase geneH R Waterham, F A Wijburg, R C Hennekam, et al.
Neurology|May 12, 2004
Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSFN I Wolf, M A A P Willemsen, U F Engelke, et al.
Journal of Medical Genetics|December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalisJ M van de Kamp, D J Lefeber, G J G Ruijter, et al.
Human Mutation|January 1, 1997
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic valueR G Boot, C E Hollak, M Verhoek, et al.
Neuropediatrics|March 17, 2006
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiencyB Assmann, G Göhlich, M Baethmann, et al.
Neurology|January 27, 2010
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseasesF Mochel, U F H Engelke, J Barritault, et al.
Brain : a Journal of Neurology|August 4, 1999
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosisA Verrips, G J Nijeholt, F Barkhof, et al.
Magnetic Resonance in Medicine|October 25, 2001
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urineS H Moolenaar, G Göhlich-Ratmann, U F Engelke, et al.
Journal of Inherited Metabolic Disease|January 26, 2006
External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot studyG J G Ruijter, M Boer, C W Weykamp, et al.
Pageof 23