Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy

Robert Wynn, J. E. Wraith, Jean Mercer, +5

The Journal of Pediatrics

TransplantationMarrow TransplantationEnzyme Replacement TherapyTransplantation MedicineHematology +5

Diagnosing mucopolysaccharidosis IVA

Timothy C. Wood, Katie Harvey, Michael Beck, +19

Journal of Inherited Metabolic Disease

Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease

Helen Church, Karen Tylee, Alan Cooper, +6

Bone Marrow Transplantation

Metabolic SyndromeTransplantationMarrow TransplantationBone Marrow FailureMetabolic Disease +9

Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy

Eveline J. Langereis, Naomi van Vlies, Heather J. Church, +11

Molecular Genetics and Metabolism

Translational MedicineMucopolysaccharidosis TypeAutoimmune DiseaseImmunodeficienciesAntibody Status +10

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

Arunabha Ghosh, Weston P. Miller, Paul J. Orchard, +8

Molecular Genetics and Metabolism

Cell TherapyTransplantationMarrow TransplantationMucopolysaccharidosis TypeEnzyme Replacement Therapy +7

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Amelia Morrone, Karen Tylee, Moeenaldeen AlSayed, +18

Molecular Genetics and Metabolism

Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapy

M. A. Saif, Brian Bigger, Karen E. Brookes, +7

Haematologica

Heparin cofactor II‐thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short‐ and long‐term treatment effects in mucopolysaccharide diseases

Kia Langford‐Smith, Jean Mercer, June Petty, +7

Journal of Inherited Metabolic Disease

ImmunodeficienciesImmunologyPathologyChondroitin Sulphate RatioInflammation +21

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on<i>GNPTAB</i>and<i>GNPTG</i>mutations

Renata Voltolini Velho, Frederike L. Harms, Tatyana Danyukova, +19

Human Mutation

Lysosomal Storage DiseaseGeneticsGlycobiologyPathologyMolecular Genetics +15

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England

Alexander Broomfield, James Davison, Joseph Roberts, +15

Molecular Genetics and Metabolism

Enzyme Replacement TherapyPediatricsPathologyMedicineLysosomal Storage Disease