2021
Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
Quraishi IH, Szekely AM, Shirali AC, Mistry PK, Hirsch LJ. Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome. Neurology Genetics 2021, 7: e614. PMID: 34337151, PMCID: PMC8320328, DOI: 10.1212/nxg.0000000000000614.Peer-Reviewed Original ResearchAction myoclonus-renal failure syndromeNeurologic symptomsAction myoclonusFailure syndromeProgressive myoclonic epilepsySubstrate reduction therapyWhole-exome sequencingMiglustat therapyAvailable medicationsEarly mortalityReduction therapyMyoclonic epilepsySteady worseningGaucher diseaseMyoclonusGlycosphingolipid metabolismExome sequencingGene mutationsGlucosylceramide accumulationPatientsSeizuresMiglustatSyndromeTherapySymptoms
2005
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease
Weinreb NJ, Barranger JA, Charrow J, Grabowski GA, Mankin HJ, Mistry P. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. American Journal Of Hematology 2005, 80: 223-229. PMID: 16247743, DOI: 10.1002/ajh.20504.Peer-Reviewed Original ResearchConceptsType 1 Gaucher diseaseEnzyme replacementGaucher diseaseSymptomatic patientsClinical manifestationsUse of miglustatProgressive lysosomal storage disorderHealth-related qualitySignificant side effectsIntravenous enzyme replacementAutosomal recessive deficiencyImiglucerase treatmentPulmonary manifestationsLysosomal storage disorderOral treatmentPulmonary diseasePatient managementSide effectsPatientsMiglustatLimited indicationsBeneficial effectsRecessive deficiencyPosition statementStorage disorder