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J E Wraith

Showing results (81-90 of 115) with videos related to

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Human Genetics|June 1, 1991
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome)J E Wraith, A Cooper, M Thornley, et al.
Archives of Disease in Childhood|March 23, 1999
Generalised uridine diphosphate galactose-4-epimerase deficiencyJ H Walter, R E Roberts, G T Besley, et al.
Molecular Genetics and Metabolism|July 21, 2009
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort studyJ E Wraith, N Guffon, M Rohrbach, et al.
European Journal of Pediatrics|January 1, 1988
"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosisG K Brown, E A Haan, D M Kirby, et al.
Human Mutation|January 1, 1995
Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)S Tomatsu, S Fukuda, A Cooper, et al.
Journal of Inherited Metabolic Disease|January 31, 2003
Niemann-Pick disease type C in adultsJ Imrie, S Vijayaraghaven, C Whitehouse, et al.
Bone Marrow Transplantation|May 23, 2006
Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndromeJ Cox-Brinkman, J-J Boelens, J E Wraith, et al.
Human Mutation|January 1, 1996
Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase geneS Fukuda, S Tomatsu, A Cooper, et al.
Human Genetics|April 1, 1995
Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differencesS Tomatsu, S Fukuda, A Cooper, et al.
Molecular Genetics and Metabolism|October 22, 2008
A novel HEXB mutation and its structural effects in juvenile Sandhoff diseaseS Z Wang, M B Cachón-González, P E Stein, et al.
Pageof 12

Showing results (81-90 of 115) with videos related to

Sort By:
Pageof 12
Human Genetics|June 1, 1991
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome)J E Wraith, A Cooper, M Thornley, et al.
Archives of Disease in Childhood|March 23, 1999
Generalised uridine diphosphate galactose-4-epimerase deficiencyJ H Walter, R E Roberts, G T Besley, et al.
Molecular Genetics and Metabolism|July 21, 2009
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort studyJ E Wraith, N Guffon, M Rohrbach, et al.
European Journal of Pediatrics|January 1, 1988
"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosisG K Brown, E A Haan, D M Kirby, et al.
Human Mutation|January 1, 1995
Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)S Tomatsu, S Fukuda, A Cooper, et al.
Journal of Inherited Metabolic Disease|January 31, 2003
Niemann-Pick disease type C in adultsJ Imrie, S Vijayaraghaven, C Whitehouse, et al.
Bone Marrow Transplantation|May 23, 2006
Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndromeJ Cox-Brinkman, J-J Boelens, J E Wraith, et al.
Human Mutation|January 1, 1996
Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase geneS Fukuda, S Tomatsu, A Cooper, et al.
Human Genetics|April 1, 1995
Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differencesS Tomatsu, S Fukuda, A Cooper, et al.
Molecular Genetics and Metabolism|October 22, 2008
A novel HEXB mutation and its structural effects in juvenile Sandhoff diseaseS Z Wang, M B Cachón-González, P E Stein, et al.
Pageof 12