0000000000660608

AUTHOR

Jean Mercer

showing 2 related works from this author

The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome)

2010

Mucopolysaccharidosis I Hurler (MPS IH) is a progressive multisystemic disorder caused by alpha-L-iduronidase deficiency. First choice of treatment in MPS IH children is haematopoietic stem cell transplantation (HSCT). The effect of HSCT has been shown to have limited influence on skeletal manifestations by poor penetration of musculoskeletal tissues by the enzyme derived from donor leucocytes. Aim of this study was to investigate the effect of HSCT on the craniocervical junction (CCJ) in Hurler patients. We analysed retrospectively sequential magnetic resonance imaging (MRI) scans of 30 patients with Hurler disease treated by HSCT since 1982 at the Royal Manchester Children's Hospital, UK,…

AdultMalemedicine.medical_specialtyAdolescentMucopolysaccharidosis Imedicine.medical_treatmentHematopoietic stem cell transplantationCohort StudiesYoung AdultMucopolysaccharidosis type IMucopolysaccharidosis IGeneticsmedicineHumansChildHurler syndromeGenetics (clinical)Retrospective StudiesBone Diseases Developmentalbusiness.industryOdontoid HypoplasiaSkullHematopoietic Stem Cell TransplantationBrainmedicine.diseaseMagnetic Resonance ImagingHypoplasiaSurgeryRadiographyTransplantationTreatment OutcomeGraft-versus-host diseaseChild PreschoolFemalebusinessJournal of Inherited Metabolic Disease
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Clinical outcomes of Hurler syndrome treated exclusively with enzyme replacement therapy from a young age

2015

Pediatricsmedicine.medical_specialtybusiness.industryEndocrinology Diabetes and MetabolismEnzyme replacement therapymedicine.diseaseBiochemistryYoung ageEndocrinologyGeneticsmedicinebusinessHurler syndromeMolecular BiologyMolecular Genetics and Metabolism
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