Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure
Householder S, Nagar R, Shah N, Forward J, Bickerton S, Mistry P, Faustino E. Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure. Frontiers In Pediatrics 2025, 13: 1476541. PMID: 40161497, PMCID: PMC11949815, DOI: 10.3389/fped.2025.1476541.Peer-Reviewed Original ResearchWhole-genome sequencingDiagnosis of Gaucher diseasePathogenic variantsGaucher diseaseAcute respiratory distress syndromeB-glucosidase activityGBA1</i> genePathogenic genetic variantsCompound heterozygote mutationsAcute respiratory failureRespiratory distress syndromeEvidence of aspirationConditions of cardiac arrestEnzyme replacement therapyAcute respiratory distressSevere bulbar dysfunctionInborn errors of metabolismMultidisciplinary approachErrors of metabolismGenetic variantsComprehensive multidisciplinary approachRespiratory failureDistress syndromeHeterozygote mutationMale infant
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply