What researchers published on Gaucher disease
160 papers, newest first.
Showing 20 of 160
Not labelled yetBeyond a Single Lysosomal Threshold: Interpreting Bistability in the GCase1-α-Synuclein Axis A Letter to the Editor on Reed et al., "Parkinson's disease, Gaucher disease, and bistability in the lysosomal degradation pathway".Mathematical biosciences
Not labelled yetPulmonary involvement in Gaucher disease patients receiving enzyme replacement therapy: a cross-sectional analysis of radiological and functional lung abnormalities.European journal of pediatrics
Case reportChanges in bone density and metabolism marker levels in type I Gaucher's disease following annual zoledronic acid hydrate administration: A case report.Bone reports
Not labelled yetVelaglucerase alfa for Gaucher disease in Japan: Long-term post-marketing surveillance data from a unique population with high rates of neuronopathic subtypes.Molecular genetics and metabolism reports
ReviewLysosomal alkalinization: a convergent mechanism in lysosomal storage disorders and classical neurodegenerative diseases.Cell communication and signaling : CCS
Not labelled yetClinical History and Burden of Gaucher Disease Type 3: A Cross-Sectional Multinational Study.JIMD reports
Case reportExtended Deletion in the GBA1 Gene, Masked by Apparent p.Asn409Ser Homozygous: Diagnostic Implications and the Need for an Integrated Genetic Approach.International journal of molecular sciences
Not labelled yetA multiscale signaling-biophysical framework reveals mechanisms of macrophage-mediated RBC clearance in sickle cell and Gaucher disease.PNAS nexus
Not labelled yetLipidomic Profiling of Peripheral Extracellular Vesicles as a Potential Source of Biomarkers in Gaucher Disease.Cells
Not labelled yetInsights into morbidity and mortality in Gaucher disease: a cohort study.Molecular genetics and metabolism reports
Not labelled yetQuantifying the Biophysical Properties of Red Blood Cells in Gaucher Disease.Biophysical journal
ReviewThyroid involvement in lysosomal storage diseases: current evidence and clinical perspectives.Reviews in endocrine & metabolic disorders
Not labelled yetDiagnostic Delay in Gaucher Disease and the Role of Gastroenterology in the Diagnostic Journey: A Real-World Cohort Study.Journal of clinical medicine
Not labelled yetParkinson's disease, Gaucher disease, and bistability in the lysosomal degradation pathway.Mathematical biosciences
Not labelled yetNew insights into bone pathology through a transcriptomic profiling of an osteoblast model of Gaucher disease.Molecular genetics and metabolism reports
Not labelled yetApplying a Pareto-Based Efficiency Frontier to Inform Value-Based Pricing for Gaucher Disease Therapies in Brazil.Pharmacoepidemiology and drug safety
Case reportCase Report: From suspected congenital rubella to a lysosomal storage disorder-diagnostic challenges in a neonate with findings strongly suggestive of Gaucher disease.Frontiers in pediatrics
Not labelled yetRare Diseases as Engines of Biomedical Innovation: Lessons for Gene Therapy and Common Disease.The Yale journal of biology and medicine
Not labelled yetPathway-level transcriptional convergence between Gaucher disease and Common variable immunodeficiency reveals concordant interferon and antigen-processing signatures.Immunology letters
Not labelled yetIntegrating Gaucher disease (GD) into mainstream hematological curriculum training.HemaSphere