2020
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York
Fierro L, Nesheiwat N, Naik H, Narayanan P, Mistry PK, Balwani M. Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York. Molecular Genetics And Metabolism 2020, 132: 44-48. PMID: 33353808, PMCID: PMC7834197, DOI: 10.1016/j.ymgme.2020.12.288.Peer-Reviewed Original ResearchConceptsSARS-CoV-2 infectionSARS-CoV-2Gaucher diseaseAcid β-glucosidase activitySARS-CoV-2 nucleic acidCOVID-19-specific treatmentsMajority of patientsChronic inflammatory stateCross-sectional studyHigher antibody responseCOVID-19 symptomsCOVID-19 exposureRare disease populationSubset of adultsGBA genotypeQuantitative titersPrior splenectomyAntibody testingHigh morbidityImmune activationInflammatory statePrimary exposureAntibody responseChronic disordersMale gender
2009
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. American Journal Of Hematology 2009, 84: 208-214. PMID: 19260119, PMCID: PMC3008404, DOI: 10.1002/ajh.21362.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge of OnsetBone Diseases, MetabolicChildCross-Sectional StudiesDisease ProgressionFemaleGaucher DiseaseGenetic HeterogeneityGenetic Predisposition to DiseaseGenotypeGlucosylceramidaseHumansHypergammaglobulinemiaIncidenceJewsMaleMiddle AgedMultiple MyelomaMutation, MissenseNeoplasmsOrgan SpecificityPhenotypePoint MutationRiskVisceraYoung AdultConceptsMultiple myelomaGaucher diseaseSkeletal diseaseRelative riskCancer riskType 1 Gaucher's diseaseCommon lysosomal storage disorderCross-sectional studyOverall cancer riskProgressive skeletal diseaseAdaptive immune systemLysosomal storage disorderAdult patientsEntire cohortLifetime riskNatural courseHematologic malignanciesRelative sparingHematologic diseasesHigh riskHigh incidencePatientsGBA1 geneHomozygous patientsImmune system