Lista de obras - Simon Jones - Dominio Público Uruguay

A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA.

artículo científico publicado en 2016

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

Changes in the incidence, patterns and outcomes of graft failure following hematopoietic stem cell transplantation for Hurler syndrome

artículo científico publicado en 2017

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency

artículo científico publicado en 2016

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.

artículo científico publicado en 2017

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

artículo científico publicado en 2017

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

artículo científico publicado en 2017

Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres

artículo científico publicado en 2016

Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.

artículo científico publicado en 2017

Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.

artículo científico publicado en 2017

IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

artículo científico publicado en 2017

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation

artículo científico publicado en 2017

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

artículo científico publicado en 2016

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.

artículo científico publicado en 2016

Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children

artículo científico publicado en 2016

Objective Quantification of Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis

artículo científico publicado en 2017

Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I.

artículo científico publicado en 2016

Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.

artículo científico publicado en 2016

Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

artículo científico publicado en 2017

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.

artículo científico publicado en 2017

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

scientific journal article

Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome].

artículo científico publicado en 2017

Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS).

artículo científico publicado en 2017

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.

scientific article published on 08 February 2017

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.

artículo científico publicado en 2017

The impact of the immune system on the safety and efficiency of enzyme replacement therapy in lysosomal storage disorders

artículo científico publicado en 2016

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

artículo científico publicado en 2016

Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU). ⬇️

artículo científico publicado en 2017

Lista de obras de Simon Jones

A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA.

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

Changes in the incidence, patterns and outcomes of graft failure following hematopoietic stem cell transplantation for Hurler syndrome

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres

Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.

Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.

IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

Leigh syndrome caused by mutations in is associated with a better prognosis

Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.

Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children

Objective Quantification of Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis

Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I.

Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.

Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome].

Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS).

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.

The impact of the immune system on the safety and efficiency of enzyme replacement therapy in lysosomal storage disorders

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU). ⬇️