Matches in SemOpenAlex for { <https://semopenalex.org/work/W2040598210> ?p ?o ?g. }
Showing items 1 to 70 of
70
with 100 items per page.
- W2040598210 endingPage "593" @default.
- W2040598210 startingPage "593" @default.
- W2040598210 abstract "Introduction: Pompe disease, a rare, recessively inherited lysosomal storage disease and glycogenosis (type II) affecting infants severely and in adults causing skeletal muscle and respiratory weakness with a less aggressive course, has become part of the changing face of neuromuscular medicine as specific treatments become available. Acid alpha-glucosidase (GAA) enzyme replacement has a clearly advantageous effect on survival in infantile disease (Kishnani 2007, Neurology 68). Methods: GAA (Myozyme®, Genzyme Corp.) has been used in France since May 2005 in adults and we have collected clinical and evaluation data from 13 French neuromuscular reference centres in a database, the independent French Pompe Registry. Results: Of 79 patient with data recorded in the Register 62 are currently receiving enzyme replacement. Four patients have died and another 3 have discontinued treatment. Results of functional respiratory (forced seated and slow supine vital capacity) and muscular measures (timed transfer tasks, Motor Function Measure) were compared before and after the start of IV GAA at 20 mg/kg/fortnight in 35 patients with a pretreatment measurement period of at least 12 months and a treatment duration of 18 months to 3 years. The rates of change of these parameters before and after the start of treatment are analysed to evaluate whether this therapy has a positive effect in stabilising the course of this disease in adults." @default.
- W2040598210 created "2016-06-24" @default.
- W2040598210 creator A5027654969 @default.
- W2040598210 creator A5031316114 @default.
- W2040598210 creator A5062321546 @default.
- W2040598210 creator A5076683669 @default.
- W2040598210 creator A5079883984 @default.
- W2040598210 creator A5080243664 @default.
- W2040598210 date "2009-09-01" @default.
- W2040598210 modified "2023-10-13" @default.
- W2040598210 title "G.P.8.08 Early results in a cohort of late-onset Pompe patients treated with enzyme replacement" @default.
- W2040598210 doi "https://doi.org/10.1016/j.nmd.2009.06.158" @default.
- W2040598210 hasPublicationYear "2009" @default.
- W2040598210 type Work @default.
- W2040598210 sameAs 2040598210 @default.
- W2040598210 citedByCount "0" @default.
- W2040598210 crossrefType "journal-article" @default.
- W2040598210 hasAuthorship W2040598210A5027654969 @default.
- W2040598210 hasAuthorship W2040598210A5031316114 @default.
- W2040598210 hasAuthorship W2040598210A5062321546 @default.
- W2040598210 hasAuthorship W2040598210A5076683669 @default.
- W2040598210 hasAuthorship W2040598210A5079883984 @default.
- W2040598210 hasAuthorship W2040598210A5080243664 @default.
- W2040598210 hasConcept C118552586 @default.
- W2040598210 hasConcept C125567185 @default.
- W2040598210 hasConcept C126322002 @default.
- W2040598210 hasConcept C141071460 @default.
- W2040598210 hasConcept C16568411 @default.
- W2040598210 hasConcept C187212893 @default.
- W2040598210 hasConcept C2776356578 @default.
- W2040598210 hasConcept C2776735236 @default.
- W2040598210 hasConcept C2779134260 @default.
- W2040598210 hasConcept C2779969927 @default.
- W2040598210 hasConcept C2780247198 @default.
- W2040598210 hasConcept C71924100 @default.
- W2040598210 hasConcept C72563966 @default.
- W2040598210 hasConceptScore W2040598210C118552586 @default.
- W2040598210 hasConceptScore W2040598210C125567185 @default.
- W2040598210 hasConceptScore W2040598210C126322002 @default.
- W2040598210 hasConceptScore W2040598210C141071460 @default.
- W2040598210 hasConceptScore W2040598210C16568411 @default.
- W2040598210 hasConceptScore W2040598210C187212893 @default.
- W2040598210 hasConceptScore W2040598210C2776356578 @default.
- W2040598210 hasConceptScore W2040598210C2776735236 @default.
- W2040598210 hasConceptScore W2040598210C2779134260 @default.
- W2040598210 hasConceptScore W2040598210C2779969927 @default.
- W2040598210 hasConceptScore W2040598210C2780247198 @default.
- W2040598210 hasConceptScore W2040598210C71924100 @default.
- W2040598210 hasConceptScore W2040598210C72563966 @default.
- W2040598210 hasIssue "8-9" @default.
- W2040598210 hasLocation W20405982101 @default.
- W2040598210 hasOpenAccess W2040598210 @default.
- W2040598210 hasPrimaryLocation W20405982101 @default.
- W2040598210 hasRelatedWork W1914211225 @default.
- W2040598210 hasRelatedWork W1980761371 @default.
- W2040598210 hasRelatedWork W2051801495 @default.
- W2040598210 hasRelatedWork W2057557165 @default.
- W2040598210 hasRelatedWork W2167525501 @default.
- W2040598210 hasRelatedWork W2194091471 @default.
- W2040598210 hasRelatedWork W2254726170 @default.
- W2040598210 hasRelatedWork W2337739382 @default.
- W2040598210 hasRelatedWork W2774378303 @default.
- W2040598210 hasRelatedWork W4293229440 @default.
- W2040598210 hasVolume "19" @default.
- W2040598210 isParatext "false" @default.
- W2040598210 isRetracted "false" @default.
- W2040598210 magId "2040598210" @default.
- W2040598210 workType "article" @default.