0000000000595616

AUTHOR

C. Luzy

showing 2 related works from this author

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

2009

Miglustat has been shown to stabilize disease progression in children, juveniles and adults with Niemann-Pick disease type C (NP-C), a rare genetic disorder characterized by progressive neurological deterioration. We report findings from a retrospective observational cohort study assessing the effects of miglustat on neurological disease progression in patients treated in the clinical practice setting. Data from all NP-C patients prescribed miglustat at 25 expert centers were evaluated using a disease disability scale. The scale analyzed four key parameters of neurological disease progression in NP-C (ambulation, manipulation, language, swallowing). Mean individual parameter scores and a co…

MalePediatricsmedicine.medical_specialty1-Deoxynojirimycin1303 BiochemistryAdolescentEndocrinology Diabetes and Metabolism610 Medicine & healthDiseaseBiochemistryCohort StudiesEndocrinology1311 GeneticsMiglustat1312 Molecular BiologyGeneticsHumansMedicineEnzyme InhibitorsChildMolecular BiologyRetrospective StudiesNiemann–Pick disease type Cbusiness.industryNiemann-Pick Disease Type CRetrospective cohort studymedicine.disease1310 EndocrinologyClinical trial2712 Endocrinology Diabetes and MetabolismTreatment Outcome10036 Medical ClinicCohortFemalebusinessNiemann–Pick diseaseCohort studymedicine.drugMolecular Genetics and Metabolism
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100. A multicentre retrospective survey of miglustat in patients with Niemann-Pick type C disease

2009

Pediatricsmedicine.medical_specialtybusiness.industryEndocrinology Diabetes and MetabolismBiochemistryEndocrinologyRetrospective surveyMiglustatGeneticsmedicineNiemann-pick type c diseaseIn patientbusinessMolecular Biologymedicine.drugMolecular Genetics and Metabolism
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