Matches in SemOpenAlex for { <https://semopenalex.org/work/W2353115109> ?p ?o ?g. }
Showing items 1 to 65 of
65
with 100 items per page.
- W2353115109 abstract "Fabry disease is an X-linked disorder of glycosphingolipid metabolism resulting from a deficiency of the lysosomal enzyme α-galactosidase A. This leads to the progressive accumulation of glycosphingolipids in lysosomes of most visceral tissues and in body fluids. Following successful clinical trials in adults, two recombinant enzyme preparations of α-galactosidase have recently been licensed in Europe for the treatment of Fabry disease and treatment in children has commenced. We now report the clinical findings and the levels of globotriaosylceramide in plasma and urine in three boys who have been treated with enzyme replacement therapy (agalsidase beta, Fabrazyme), 1 mg/ kg for 2 years. In one boy there was a rapid improvement in all the clinical and biochemical parameters measured. This has been maintained. In the other two boys, who are siblings, there was no measurable clinical improvement after 1 year and the levels of globotriaosylceramide in plasma and urine, although lower than before treatment, were still considerably elevated. There was no evidence of blocking or neutralising antibodies so the dose of enzyme was increased to 2 mg/kg at 74 weeks of therapy. At 2 years their pain scores had improved but this was not accompanied by any reduction in the plasma or urine globotriaosylceramide levels. Conclusion: measurement of globotriaosylceramide in plasma and urinemay not be the most appropriate marker to monitor the progression of treatment by enzyme replacement therapy in all patients. Certainly the subjective clinical improvement in the two brothers in this report out-weighed the objective biochemical findings." @default.
- W2353115109 created "2016-06-24" @default.
- W2353115109 creator A5010650671 @default.
- W2353115109 date "2005-01-01" @default.
- W2353115109 modified "2023-09-27" @default.
- W2353115109 title "Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease" @default.
- W2353115109 hasPublicationYear "2005" @default.
- W2353115109 type Work @default.
- W2353115109 sameAs 2353115109 @default.
- W2353115109 citedByCount "0" @default.
- W2353115109 crossrefType "journal-article" @default.
- W2353115109 hasAuthorship W2353115109A5010650671 @default.
- W2353115109 hasConcept C126322002 @default.
- W2353115109 hasConcept C134018914 @default.
- W2353115109 hasConcept C203014093 @default.
- W2353115109 hasConcept C22222904 @default.
- W2353115109 hasConcept C2776788019 @default.
- W2353115109 hasConcept C2777404818 @default.
- W2353115109 hasConcept C2777687718 @default.
- W2353115109 hasConcept C2779134260 @default.
- W2353115109 hasConcept C2779969927 @default.
- W2353115109 hasConcept C2780026642 @default.
- W2353115109 hasConcept C2910328161 @default.
- W2353115109 hasConcept C71924100 @default.
- W2353115109 hasConcept C90924648 @default.
- W2353115109 hasConceptScore W2353115109C126322002 @default.
- W2353115109 hasConceptScore W2353115109C134018914 @default.
- W2353115109 hasConceptScore W2353115109C203014093 @default.
- W2353115109 hasConceptScore W2353115109C22222904 @default.
- W2353115109 hasConceptScore W2353115109C2776788019 @default.
- W2353115109 hasConceptScore W2353115109C2777404818 @default.
- W2353115109 hasConceptScore W2353115109C2777687718 @default.
- W2353115109 hasConceptScore W2353115109C2779134260 @default.
- W2353115109 hasConceptScore W2353115109C2779969927 @default.
- W2353115109 hasConceptScore W2353115109C2780026642 @default.
- W2353115109 hasConceptScore W2353115109C2910328161 @default.
- W2353115109 hasConceptScore W2353115109C71924100 @default.
- W2353115109 hasConceptScore W2353115109C90924648 @default.
- W2353115109 hasLocation W23531151091 @default.
- W2353115109 hasOpenAccess W2353115109 @default.
- W2353115109 hasPrimaryLocation W23531151091 @default.
- W2353115109 hasRelatedWork W1967270191 @default.
- W2353115109 hasRelatedWork W2056498322 @default.
- W2353115109 hasRelatedWork W2081425602 @default.
- W2353115109 hasRelatedWork W2085884984 @default.
- W2353115109 hasRelatedWork W2089696914 @default.
- W2353115109 hasRelatedWork W2132835404 @default.
- W2353115109 hasRelatedWork W2132911597 @default.
- W2353115109 hasRelatedWork W2133285286 @default.
- W2353115109 hasRelatedWork W2136689144 @default.
- W2353115109 hasRelatedWork W230215977 @default.
- W2353115109 hasRelatedWork W2403363730 @default.
- W2353115109 hasRelatedWork W2405124197 @default.
- W2353115109 hasRelatedWork W2416692221 @default.
- W2353115109 hasRelatedWork W2421661225 @default.
- W2353115109 hasRelatedWork W2735719527 @default.
- W2353115109 hasRelatedWork W2899172096 @default.
- W2353115109 hasRelatedWork W2934793402 @default.
- W2353115109 hasRelatedWork W3136259781 @default.
- W2353115109 hasRelatedWork W3152405948 @default.
- W2353115109 hasRelatedWork W568762054 @default.
- W2353115109 isParatext "false" @default.
- W2353115109 isRetracted "false" @default.
- W2353115109 magId "2353115109" @default.
- W2353115109 workType "article" @default.