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Jean Mercer

Showing results (21-30 of 35) with videos related to

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Acta Ophthalmologica|December 15, 2017
The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler)Ahmed Javed, Tariq Aslam, Simon A Jones, et al.
Journal of Inherited Metabolic Disease|June 22, 2012
Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experienceDaniel H Wiseman, Jean Mercer, Karen Tylee, et al.
Human Mutation|July 29, 2017
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type IArunabha Ghosh, Jean Mercer, Sabrina Mackinnon, et al.
Journal of Inherited Metabolic Disease|January 22, 2011
Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)Chris J Gardner, Nicola Robinson, Tim Meadows, et al.
Orphanet Journal of Rare Diseases|January 22, 2021
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in EnglandMaureen Cleary, James Davison, Rachel Gould, et al.
Journal of Inherited Metabolic Disease|December 21, 2010
Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseasesKia Jane Langford-Smith, Jean Mercer, June Petty, et al.
Molecular Genetics and Metabolism|February 3, 2016
Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centresArunabha Ghosh, Weston Miller, Paul J Orchard, et al.
Haematologica|February 29, 2012
Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapyMuhammad Ameer Saif, Brian W Bigger, Karen E Brookes, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcomeAbhijit Ricky Pal, Eveline J Langereis, Muhammad A Saif, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|February 25, 2015
Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelinesMieke Aldenhoven, Simon A Jones, Denise Bonney, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Acta Ophthalmologica|December 15, 2017
The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler)Ahmed Javed, Tariq Aslam, Simon A Jones, et al.
Journal of Inherited Metabolic Disease|June 22, 2012
Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experienceDaniel H Wiseman, Jean Mercer, Karen Tylee, et al.
Human Mutation|July 29, 2017
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type IArunabha Ghosh, Jean Mercer, Sabrina Mackinnon, et al.
Journal of Inherited Metabolic Disease|January 22, 2011
Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)Chris J Gardner, Nicola Robinson, Tim Meadows, et al.
Orphanet Journal of Rare Diseases|January 22, 2021
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in EnglandMaureen Cleary, James Davison, Rachel Gould, et al.
Journal of Inherited Metabolic Disease|December 21, 2010
Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseasesKia Jane Langford-Smith, Jean Mercer, June Petty, et al.
Molecular Genetics and Metabolism|February 3, 2016
Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centresArunabha Ghosh, Weston Miller, Paul J Orchard, et al.
Haematologica|February 29, 2012
Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapyMuhammad Ameer Saif, Brian W Bigger, Karen E Brookes, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcomeAbhijit Ricky Pal, Eveline J Langereis, Muhammad A Saif, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|February 25, 2015
Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelinesMieke Aldenhoven, Simon A Jones, Denise Bonney, et al.
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