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B T Poll-The

Showing results (101-110 of 127) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1986
Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunctionB T Poll-The, J M Saudubray, H Ogier, et al.
Ultrastructural Pathology|November 1, 1993
Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctataM Espeel, J C Heikoop, J A Smeitink, et al.
Virchows Archiv : an International Journal of Pathology|August 30, 2000
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiencyT J de Koning, P G Nikkels, L Dorland, et al.
Neurology|February 28, 2007
Phenotype of adult Refsum disease due to a defect in peroxin 7M A Horn, D M van den Brink, R J A Wanders, et al.
Annals of Neurology|November 18, 1998
Clinical approach to inherited peroxisomal disorders: a series of 27 patientsM R Baumgartner, B T Poll-The, N M Verhoeven, 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.
Human Genetics|January 1, 1996
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationshipJ K Ploos van Amstel, A J Bergman, E A van Beurden, et al.
Molecular Genetics and Metabolism|March 31, 2007
Molecular and clinical characterization of a Moroccan Cog7 deficient patientBobby G Ng, Christian Kranz, E E O Hagebeuk, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndromeB T Poll-The, J Frenkel, S M Houten, et al.
Neurology|February 12, 2004
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survivalP G Barth, C B L M Majoie, J Gootjes, et al.
Pageof 13

Showing results (101-110 of 127) with videos related to

Sort By:
Pageof 13
Journal of Inherited Metabolic Disease|January 1, 1986
Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunctionB T Poll-The, J M Saudubray, H Ogier, et al.
Ultrastructural Pathology|November 1, 1993
Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctataM Espeel, J C Heikoop, J A Smeitink, et al.
Virchows Archiv : an International Journal of Pathology|August 30, 2000
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiencyT J de Koning, P G Nikkels, L Dorland, et al.
Neurology|February 28, 2007
Phenotype of adult Refsum disease due to a defect in peroxin 7M A Horn, D M van den Brink, R J A Wanders, et al.
Annals of Neurology|November 18, 1998
Clinical approach to inherited peroxisomal disorders: a series of 27 patientsM R Baumgartner, B T Poll-The, N M Verhoeven, 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.
Human Genetics|January 1, 1996
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationshipJ K Ploos van Amstel, A J Bergman, E A van Beurden, et al.
Molecular Genetics and Metabolism|March 31, 2007
Molecular and clinical characterization of a Moroccan Cog7 deficient patientBobby G Ng, Christian Kranz, E E O Hagebeuk, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndromeB T Poll-The, J Frenkel, S M Houten, et al.
Neurology|February 12, 2004
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survivalP G Barth, C B L M Majoie, J Gootjes, et al.
Pageof 13