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BACKGROUND Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease subdivided into three phenotypes of increasing severity: Scheie, Hurler-Scheie and Hurler. To gauge the effectiveness of treatments and to determine the load likely to fall on health-care systems, it is necessary to understand the prevalence and natural progression of the(More)
BACKGROUND Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL). METHODS This patient-reported outcomes survey evaluated the global burden of Morquio A among adults (≥18 years, N = 27) and children (7-17 years, N = 36), including(More)
UNLABELLED Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs and symptoms, and disease progression are heterogeneous,(More)
Little is known about thefirst patients who left hospital before and during the official implementation of the hospital discharge policy in Northern Ireland. This study describes patterns of residential provision for former long-stay patients (approximately two-thirds of whom had an ICD-9 diagnosis of schizophrenia) discharged from the six major psychiatric(More)
BACKGROUND Morquio syndrome A (mucopolysaccharidosis type IVA) is an autosomal recessive, life-limiting lysosomal storage disease characterized by deficient activity of the enzyme galactosamine-6-sulfatase. The disease affects multiple body systems, and patients require multidisciplinary care from an early age. METHODS To better understand the natural(More)
INTRODUCTION Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration is burdensome and expensive, appropriate use is mandatory. We aimed to define European consensus recommendations for the initiation(More)
AIM To explore the frequency with which children and young people participate in social activities with peers, when they are affected by Mucopolysaccharidosis I Hurler Disease (MPS IH) post bone marrow transplant (BMT). This was investigated in relation to patient age, and in comparison with a normative sample. Patient withdrawal, adaptive and social skills(More)
OBJECTIVES Little is known about the first cohorts of long-stay hospital residents with learning disabilities who moved to the community. This study describes the pattern of residential reprovision for all former long-stay residents discharged from the three mental handicap hospitals in Northern Ireland between 1987 and 1990 (N = 283) as well as describing(More)
BACKGROUND Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there are several challenges to conducting clinical research in this area. We seek to make recommendations on the approach to clinical research in(More)