What researchers published on Gaucher disease
161 papers, newest first.
Showing 40 of 161
Not labelled yetHow Can We Reliably Highlight Nanoscale Lipid Heterogeneities in Erythrocyte Membranes?Analytical chemistry
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
Case reportThe close relationship between a rare disease and a common disease: Case report of a patient with gaucher disease and parkinsonism.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Not labelled yetGeneration and Characterization of an Osteoclastic Cell Model of Gaucher's Bone Disease.Calcified tissue international
ReviewAmbroxol in Gaucher disease and GBA1-related Parkinson disease: an updated systematic review.Acta neurologica Belgica
ReviewMiglustat in Neuronopathic Lysosomal Storage Disorders: Biological Rationale, Clinical Evidence, and Limits of Repurposing.International journal of molecular sciences
Observational studyImpaired α-Granule Secretion Dominates Longitudinal Agonist-Induced Platelet Dysfunction in Gaucher Disease.International journal of molecular sciences
PreprintMA-5 attenuates disease-associated transcriptomic aging and pathological microglial states in Gaucher disease.Research square
Not labelled yetClinical course and biomarkers in patients with type 1 Gaucher disease and Parkinson's disease: A retrospective cohort study.Molecular genetics and metabolism reports
Not labelled yetComputational evaluation of EPA-PC binding to GCase in neuronopathic Gaucher disease.Current research in structural biology
Case reportEarly-onset parkinsonism as a presenting feature of suspected type 1 Gaucher disease with two pathogenic GBA1 variants: a case report.Frontiers in neuroscience
Not labelled yetHemophagocytic Lymphohistiocytosis in a Patient With Gaucher Disease Having a Homozygous STXBP3 Variant.Pediatric blood & cancer
Case reportDelayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up.The American journal of case reports
Not labelled yetClinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay.Orphanet journal of rare diseases
PreprintQuantifying the Biophysical Properties of Red Blood Cells in Gaucher Disease.ArXiv
ReviewDisruptions in speech, language and social communication in lysosomal storage diseases.Neuroscience and biobehavioral reviews
Not labelled yetMultiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.Molecular genetics and metabolism
Not labelled yetNovel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.Brain & development
Not labelled yetClinical Experience With Eliglustat in Children With Gaucher Disease Type 1.American journal of medical genetics. Part A
Case reportRAF/MEK clamp inhibition with avutometinib and cetuximab in RAF1 S257L-mutated, anti-EGFR-refractory metastatic colorectal cancer in Gaucher's disease.The oncologist
Not labelled yetDiagnostic Challenge of Pediatric Gaucher Disease in a Low-Resource South Asian Setting: A Case Report.Clinical case reports