2018
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Molecular Genetics And Metabolism 2018, 126: 98-105. PMID: 30514648, PMCID: PMC7249497, DOI: 10.1016/j.ymgme.2018.11.014.Peer-Reviewed Original ResearchConceptsAcid sphingomyelinase deficiencyLifestyle modificationEvidence-informed consensus processMajor organ system involvementSphingomyelinase deficiencyAcid sphingomyelinaseLife style modificationDisease-specific treatmentOrgan system involvementInterdisciplinary clinical teamRare lysosomal storage diseaseEnzyme replacement therapyClinical assessment strategiesRecombinant human acid sphingomyelinaseLymph nodesDisease complicationsLiver diseasePatients' qualitySignificant morbiditySymptom managementSymptomatic treatmentClinical manifestationsReplacement therapyStyle modificationMultisystem involvement
2004
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. The Journal Of Pediatrics 2004, 144: 112-120. PMID: 14722528, DOI: 10.1016/j.jpeds.2003.10.067.Peer-Reviewed Original Research