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J E Wraith

Showing results (101-110 of 115) with videos related to

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Human Genetics|March 1, 1991
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndromeP J Wilson, G K Suthers, D F Callen, et al.
Journal of Inherited Metabolic Disease|August 11, 2004
Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complexD G Ramadan, R A Head, A Al-Tawari, et al.
Journal of Inherited Metabolic Disease|December 13, 2006
The natural history of Niemann-Pick disease type C in the UKJ Imrie, S Dasgupta, G T N Besley, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populationsG M Rezvi, S Tomatsu, S Fukuda, et al.
Molecular Genetics and Metabolism|August 7, 2009
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort studyM Pineda, J E Wraith, E Mengel, et al.
JIMD Reports|January 31, 2016
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell TransplantationA S Kunin-Batson, E G Shapiro, K D Rudser, et al.
BMJ (Clinical Research Ed.)|August 28, 2012
Transfer of high cost drugs to NICE risks fragmentation of care of rare diseasesChris J Hendriksz, D A Hughes, A B Mehta, et al.
Journal of Inherited Metabolic Disease|July 15, 2009
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS)S A Jones, Z Almássy, M Beck, et al.
Genomics|August 31, 2000
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutationsT Fukao, G A Mitchell, X Q Song, et al.
Bone Marrow Transplantation|May 29, 2007
Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failureJ J Boelens, R F Wynn, A O'Meara, et al.
Pageof 12

Showing results (101-110 of 115) with videos related to

Sort By:
Pageof 12
Human Genetics|March 1, 1991
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndromeP J Wilson, G K Suthers, D F Callen, et al.
Journal of Inherited Metabolic Disease|August 11, 2004
Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complexD G Ramadan, R A Head, A Al-Tawari, et al.
Journal of Inherited Metabolic Disease|December 13, 2006
The natural history of Niemann-Pick disease type C in the UKJ Imrie, S Dasgupta, G T N Besley, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populationsG M Rezvi, S Tomatsu, S Fukuda, et al.
Molecular Genetics and Metabolism|August 7, 2009
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort studyM Pineda, J E Wraith, E Mengel, et al.
JIMD Reports|January 31, 2016
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell TransplantationA S Kunin-Batson, E G Shapiro, K D Rudser, et al.
BMJ (Clinical Research Ed.)|August 28, 2012
Transfer of high cost drugs to NICE risks fragmentation of care of rare diseasesChris J Hendriksz, D A Hughes, A B Mehta, et al.
Journal of Inherited Metabolic Disease|July 15, 2009
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS)S A Jones, Z Almássy, M Beck, et al.
Genomics|August 31, 2000
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutationsT Fukao, G A Mitchell, X Q Song, et al.
Bone Marrow Transplantation|May 29, 2007
Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failureJ J Boelens, R F Wynn, A O'Meara, et al.
Pageof 12