SjukdomarKemikalier och läkemedelTekniker och utrustning för analys, diagnostik och terapi
Mukopolysackaridos IIIduronatsulfatasEnzyme Replacement TherapyMukopolysackaridos IMukopolysackaridos VIMukopolysackaridos VIIMukopolysackaridos IIIMukopolysackaridoserMukopolysackaridos IVIduronidasN-acetylgalaktosamin-4-sulfatasKondro-4-sulfatasKondroitinsulfataserGlukuronidasGlykosaminoglykaner

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. (49/112)

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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. (50/112)

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Closed Meningo(encephalo)cele: a new feature in Hunter syndrome. (51/112)

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CNS penetration of intrathecal-lumbar idursulfase in the monkey, dog and mouse: implications for neurological outcomes of lysosomal storage disorder. (52/112)

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Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. (53/112)

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Development of the multi-attribute Adolescent Health Utility Measure (AHUM). (54/112)

OBJECTIVE: Obtain utilities (preferences) for a generalizable set of health states experienced by older children and adolescents who receive therapy for chronic health conditions. METHODS: A health state classification system, the Adolescent Health Utility Measure (AHUM), was developed based on generic health status measures and input from children with Hunter syndrome and their caregivers. The AHUM contains six dimensions with 4-7 severity levels: self-care, pain, mobility, strenuous activities, self-image, and health perceptions. Using the time trade off (TTO) approach, a UK population sample provided utilities for 62 of 16,800 AHUM states. A mixed effects model was used to estimate utilities for the AHUM states. The AHUM was applied to trial NCT00069641 of idursulfase for Hunter syndrome and its extension (NCT00630747). RESULTS: Observations (i.e., utilities) totaled 3,744 (12*312 participants), with between 43 to 60 for each health state except for the best and worst states which had 312 observations. The mean utilities for the best and worst AHUM states were 0.99 and 0.41, respectively. The random effects model was statistically significant (p < 0.0001; adjusted R2 = 0.361; RMSE = 0.194). When AHUM utilities were applied to the idursulfase trial, mean utilities in the idursulfase weekly and placebo groups improved +0.087 and +0.006, respectively, from baseline to week 53. In the extension, when all patients received idursulfase, the utilities in the treatment group remained stable and the placebo group improved +0.039. DISCUSSION: The AHUM health state classification system may be used in future research to enable calculation of quality-adjust life expectancy for applicable health conditions.  (+info)

Disruption of enamel crystal formation quantified by synchrotron microdiffraction. (55/112)

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Relationship of sleep to pulmonary function in mucopolysaccharidosis II. (56/112)

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