What researchers published on Gaucher disease
161 papers, newest first.
Showing 100 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
Not labelled yetCoexistence of Multiple Myeloma and Gaucher Disease: A Pilot Study.Turkish journal of haematology : official journal of Turkish Society of Haematology
Not labelled yetThe cutaneous phenotypic landscape of Gaucher disease type 1: A clinic-based cross-sectional study.Journal of the American Academy of Dermatology
Not labelled yetEstablishment of a human induced pluripotent stem cell line (PNUSCRi003-A) from a patient with Gaucher disease carrying compound heterozygous p.Arg87Trp and p.Arg296Gln variants in the GBA1 gene.Stem cell research
Not labelled yetCrumpled cytoplasm, clear diagnosis: the iconic morphology of Gaucher disease.Blood
Case report[Paediatric Gaucher disease type 1: diagnostic challenges in presence of hepatosplenomegaly and pancytopenia].Annales de biologie clinique
ReviewThe Sphingolipid Balance and Endothelial Dysfunction in Lysosomal Storage Diseases: Shared Mechanisms in Gaucher, Niemann-Pick and Fabry Disease.International journal of molecular sciences
Not labelled yetLong-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease - A Multicentric Study.Indian journal of pediatrics
Not labelled yetA genome-wide screen identifies that PLCG2 restrains lysosomal GCase activity.Proceedings of the National Academy of Sciences of the United States of America
Not labelled yetClinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.BMC pediatrics
Not labelled yetPatient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies.eLife
Not labelled yetTrue Gaucher's Disease or Pseudo-Gaucher Presentations.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
Case reportGaucher Disease Treated With Lentiviral-Mediated Gene Therapy: First Case.Journal of inherited metabolic disease
Not labelled yetCumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease.American journal of hematology
Not labelled yetpersistent pain and fatigue drive reduced quality of life in treated Gaucher disease type 1: a cross-sectional analysis.Orphanet journal of rare diseases
Not labelled yetA 53-week, open-label phase IIIb study of velaglucerase alfa in Chinese patients with type 1 Gaucher disease: Safety, efficacy, and pharmacokinetics.Molecular genetics and metabolism reports
Not labelled yetLiver MR elastography in Gaucher disease: Longitudinal association with disease severity.Molecular genetics and metabolism
Not labelled yetEstablishment of an N-Glycan Profiling Method for Three ERT Enzymes Used in Gaucher Disease Therapy.Molecules (Basel, Switzerland)
ReviewFrom Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease.International journal of molecular sciences
Case reportDiagnosis and follow-up of the first case of Gaucher disease under enzyme replacement therapy in Senegal.Ghana medical journal
Not labelled yetNrf2/NOX2 Pathway Dysregulation and Oxidative Stress Biomarkers in Gaucher Disease-Associated Parkinsonism: Insights Into a Potential Therapeutic Target.Journal of cellular and molecular medicine
Not labelled yetMultivalent C2-alkyl trihydroxypiperidine architectures modulate β-glucocerebrosidase activity.European journal of medicinal chemistry
Not labelled yetTranscriptomic Profiling of Monozygotic Twins with Type 1 Gaucher Disease.Life (Basel, Switzerland)
Case reportFetal/Perinatal Lethal Gaucher Disease: A Case Series.Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Not labelled yet[Efficacy and safety of eliglustat tartrate in adults with Gaucher disease type 1].Zhonghua yi xue za zhi
Case reportGaucher disease: the hematologist's perspective of a multisystemic disorder.Annals of hematology
ReviewPharmacotherapies for Gaucher disease: what's new on the horizon?Expert opinion on pharmacotherapy
ReviewTargeting lysosomal dysfunction with small-molecule TRPML1 ligands: Therapeutic opportunities in lysosomal storage disorders, neurodegeneration and beyond.European journal of medicinal chemistry
Not labelled yetCorrection to "Evaluation of Induced Pluripotent Stem Cell-Derived Dopaminergic Neurons from Siblings with Gaucher Disease Discordant for Parkinsonism".Movement disorders : official journal of the Movement Disorder Society
Not labelled yetEmerging pharmacotherapies in Gaucher disease.Expert opinion on emerging drugs
Not labelled yetGlucosylsphingosine (Lyso-Gb1) Dynamics in Untreated States in Gaucher Disease.International journal of molecular sciences
Not labelled yetRisk Is Not Destiny: Unmasked Penetrance of Parkinson Disease in Gaucher Disease.Neurology
Meta-analysisGenotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review.Human genomics
In plain wordsRead moreRead the paper on PubMedNot labelled yetAge-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry.Neurology
PreprintA Multiscale Signaling-Biophysical Framework Reveals Mechanisms of Macrophage-Mediated RBC Clearance in Sickle Cell and Gaucher Disease.bioRxiv : the preprint server for biology
Not labelled yetThe c-Abl-RIPK3 Axis Drives Mitochondrial Dysfunction and Impaired Mitophagy in Gaucher Disease Models.Antioxidants (Basel, Switzerland)
Not labelled yetFamily studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies.Orphanet journal of rare diseases
Not labelled yetLeft Ventricular Global Longitudinal Strain as an Early Predictor of Disease Severity Progression in Gaucher Disease Type 1.Echocardiography (Mount Kisco, N.Y.)
Observational studyLongitudinal Evaluation of Neurological and Sensory Changes in Gaucher Disease: A Prospective Observational Cohort Study (SENOPRO).Medical sciences (Basel, Switzerland)
Not labelled yetAdverse events signals of enzyme replacement drugs of Gaucher disease: insights from FAERS database analysis.Frontiers in medicine
Not labelled yetGenomic Structural Equation Modeling Provides an Initial View of the Genetic Architecture Related to Type 1 Gaucher Disease.Human mutation
Case reportAddressing kyphoscoliosis in Gaucher's disease: a multidisciplinary approach to a rare case.BMC musculoskeletal disorders
Not labelled yet[Expert consensus on neonatal screening for common lysosomal storage disorders(2026)].Zhonghua er ke za zhi = Chinese journal of pediatrics
Not labelled yetImprovement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.Journal of clinical medicine
Not labelled yetA bioinformatics-guided analytical approach for drug repositioning: Colchicine as a candidate for gaucher disease treatment.Analytical biochemistry
Not labelled yetChildhood Interstitial Lung Disease in Metabolic Disorders: Prevalence, Genotypic and Clinical Characteristics, and Management Approaches: An Analysis of the Child-Turkey Registry.Pediatric pulmonology
Case reportChronic Myeloid Leukemia Transforming into Acute Lymphoblastic Leukemia in a Patient with Gaucher Disease: A Case Report and Literature Review.Case reports in oncology
Not labelled yetReal-World Effectiveness and Safety of Eliglustat in Adult Patients with Gaucher Disease Type 1: A Multicenter Retrospective Study in China.Journal of clinical medicine
Not labelled yetSafety and Efficacy of Ambroxol Therapy in Polish Patients with Gaucher Disease.Life (Basel, Switzerland)
Not labelled yetDevelopment and optimization of human glucocerebrosidase-encoding mRNA for Gaucher disease therapy.Biochemical and biophysical research communications
Not labelled yetReference intervals for lysosomal glucocerebrosidase activity in the healthy population.Scandinavian journal of clinical and laboratory investigation
Not labelled yetThe global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.Orphanet journal of rare diseases
ReviewRepurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.Molecular genetics and metabolism
Not labelled yetIncreased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation.Journal of internal medicine
ReviewGlucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.International journal of molecular sciences
Not labelled yetStability study of pharmacy compounded high-dose ambroxol hydrochloride capsules for an n-of-1 clinical trial involving Dutch patients with Gaucher disease type 3.European journal of hospital pharmacy : science and practice
Not labelled yetGaucher disease masked by childhood splenectomy: a forty-year diagnostic delay.Polish archives of internal medicine
Not labelled yetTikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study.JMIR formative research
Not labelled yetDevelopment of Nickel Prussian Blue Analogue Nanoparticles Stabilizing the Glucocerebrosidase in the Treatment of Gaucher Disease (GD).ACS applied materials & interfaces
Not labelled yetExploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions.Orphanet journal of rare diseases
Observational studyMaternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry.Journal of inherited metabolic disease