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Journal of Inherited Metabolic Disease
|
September 10, 2024
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Orphanet Journal of Rare Diseases
|
February 10, 2017
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
Simon A Jones, Sandra Rojas-Caro, Anthony G Quinn, et al.
Orphanet Journal of Rare Diseases
|
October 15, 2021
In-depth phenotyping for clinical stratification of Gaucher disease
Simona D'Amore, Kathleen Page, Aimée Donald, et al.
JIMD Reports
|
July 25, 2015
Coenzyme Q<sub>10</sub> and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III
Dèlia Yubero, Raquel Montero, Mar O'Callaghan, et al.
Orphanet Journal of Rare Diseases
|
August 12, 2011
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
Minke H de Ru, Jaap J Boelens, Anibh M Das, et al.
International Journal of Obstetric Anesthesia
|
May 29, 2025
Maternal physiological parameters and routine laboratory tests to screen for maternal sepsis: an observational cohort study
T Culling, C Bertorelli, A Strang, et al.
Journal of Translational Medicine
|
July 5, 2023
Intraparenchymal convection enhanced delivery of AAV in sheep to treat Mucopolysaccharidosis IIIC
Claire O'Leary, Gabriella Forte, Nadia L Mitchell, et al.
Journal of Inherited Metabolic Disease
|
May 31, 2018
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
Line Borgwardt, Nathalie Guffon, Yasmina Amraoui, et al.
Molecular Genetics and Metabolism
|
January 14, 2015
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome
Paul R Harmatz, Karl Eugen Mengel, Roberto Giugliani, et al.
The New England Journal of Medicine
|
December 30, 2025
An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Page
of 26
Search research articles
Search
Showing results (211-220 of 259) with videos related to
Sort By:
Page
of 26
Journal of Inherited Metabolic Disease
|
September 10, 2024
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Orphanet Journal of Rare Diseases
|
February 10, 2017
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
Simon A Jones, Sandra Rojas-Caro, Anthony G Quinn, et al.
Orphanet Journal of Rare Diseases
|
October 15, 2021
In-depth phenotyping for clinical stratification of Gaucher disease
Simona D'Amore, Kathleen Page, Aimée Donald, et al.
JIMD Reports
|
July 25, 2015
Coenzyme Q<sub>10</sub> and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III
Dèlia Yubero, Raquel Montero, Mar O'Callaghan, et al.
Orphanet Journal of Rare Diseases
|
August 12, 2011
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
Minke H de Ru, Jaap J Boelens, Anibh M Das, et al.
International Journal of Obstetric Anesthesia
|
May 29, 2025
Maternal physiological parameters and routine laboratory tests to screen for maternal sepsis: an observational cohort study
T Culling, C Bertorelli, A Strang, et al.
Journal of Translational Medicine
|
July 5, 2023
Intraparenchymal convection enhanced delivery of AAV in sheep to treat Mucopolysaccharidosis IIIC
Claire O'Leary, Gabriella Forte, Nadia L Mitchell, et al.
Journal of Inherited Metabolic Disease
|
May 31, 2018
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
Line Borgwardt, Nathalie Guffon, Yasmina Amraoui, et al.
Molecular Genetics and Metabolism
|
January 14, 2015
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome
Paul R Harmatz, Karl Eugen Mengel, Roberto Giugliani, et al.
The New England Journal of Medicine
|
December 30, 2025
An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II
Joseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Page
of 26