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Showing results (101-110 of 136) with videos related to

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American Journal of Human Genetics|March 1, 1988
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)B T Poll-The, F Roels, H Ogier, et al.
Human Mutation|June 6, 2006
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduriaH Bikker, H D Bakker, N G G M Abeling, et al.
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.
Journal of Neurology, Neurosurgery, and Psychiatry|June 13, 2009
Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutationA H Stam, G-J Luijckx, B T Poll-Thé, 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.
Pageof 14

Showing results (101-110 of 136) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|March 1, 1988
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)B T Poll-The, F Roels, H Ogier, et al.
Human Mutation|June 6, 2006
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduriaH Bikker, H D Bakker, N G G M Abeling, et al.
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.
Journal of Neurology, Neurosurgery, and Psychiatry|June 13, 2009
Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutationA H Stam, G-J Luijckx, B T Poll-Thé, 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.
Pageof 14