Disease: Gaucher disease type 2
- 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
- A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease
- A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF
- A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy
- A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease
- A practical synthesis of nitrone-derived C5a-functionalized isofagomines as protein stabilizers to treat Gaucher disease
- A rare disease in adult women: Gaucher disease
- A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment
- A review on Gaucher disease: therapeutic potential of beta-glucocerebrosidase-targeted mRNA/saRNA approach
- A Smooth Muscle Cell-Based Ferroptosis Model to Evaluate Iron-Chelating Molecules for Cardiovascular Disease Treatment
- Activation and Purification of ss-Glucocerebrosidase by Exploiting its Transporter LIMP-2 - Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease
- Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report
- Advancements in Viral Gene Therapy for Gaucher Disease
- An AAV capsid reprogrammed to bind human Transferrin Receptor mediates brain-wide gene delivery
- An increase in ER stress and unfolded protein response in iPSCs-derived neuronal cells from neuronopathic Gaucher disease patients
- An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation
- Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data
- Autophagic dysfunction and gut microbiota dysbiosis cause chronic immune activation in a Drosophila model of Gaucher disease
- Bone pain and spleno- megaly: Gaucher's disease
- c.754T>A homozygous mutation described for the first time in three Moroccan patients with Gaucher disease
- Cancer Risk in Patients with Gaucher Disease Using Real-World Data
- Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais
- Characterization of Novel Human beta-glucocerebrosidase Antibodies for Parkinson's Disease Research
- Characterization of Novel Human β-glucocerebrosidase Antibodies for Parkinson's Disease Research
- Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
- Clinical Manifestation of Hearing Loss in a Boy with Type IIIb Gaucher Disease: A Unique Case Report
- Clinical-radiological-pathological correlation in pulmonary hypertension with unclear and/or multifactorial mechanisms
- Comparative study of enriched dopaminergic neurons from siblings with Gaucher disease discordant for parkinsonism
- Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan
- Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naive adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial
- Effects of Paraquat, Dextran Sulfate Sodium, and Irradiation on Behavioral and Cognitive Performance and the Gut Microbiome in A53T and A53T-L444P Mice
- Eliglustat exerts anti-fibrotic effects by activating SREBP2 in TGF-β1-treated myofibroblasts derived from patients with idiopathic pulmonary fibrosis
- Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy
- Enhancing access to treatment for Gaucher disease in India: The need for indigenous manufacturing
- Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots
- Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies
- Formulated hydroxy fatty acids from fruit pomaces reduce apple scab development caused by <em>Venturia inaequalis</em> through a dual mode of action
- Gaucher Disease
- Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant
- Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis
- Gaucher Disease: A First Reported Adult Case in Indonesia
- Gaucher Disease: A Glance from a Medicinal Chemistry Perspective
- GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease
- GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice
- Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease
- Glucose-6-phosphate dehydrogenase deficiency with coinherited Gaucher disease: A rare association
- Glucosylceramide accumulation in microglia triggers STING-dependent neuroinflammation and neurodegeneration in mice
- Glucosylceramide flippases contribute to cellular glucosylceramide homeostasis
- GPNMB Biomarker Levels in GBA1 Carriers with Lewy Body Disorders
- Green Biologics: Harnessing the Power of Plants to Produce Pharmaceuticals
- Gut dysbiosis impairs intestinal renewal and lipid absorption in Scarb2 deficiency-associated neurodegeneration
- High-Oxygen-Affinity Hemoglobins-Case Series and Review of the Literature
- Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction
- Identification of ß-Glucocerebrosidase Activators for Glucosylceramide hydrolysis
- Immunophenotype associated with high sustained antibody titers against enzyme replacement therapy in infantile-onset Pompe disease
- Improving Data Collection in Pregnancy Safety Studies: Towards Standardisation of Data Elements in Pregnancy Reports from Public and Private Partners, A Contribution from the ConcePTION Project
- In vivo corneal confocal microscopy revealing Gaucher disease in a child
- Inhibition of cysteine protease cathepsin Lincreases the level and activity of lysosomal glucocerebrosidase
- Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy
- Lipids as Emerging Biomarkers in Neurodegenerative Diseases
- Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry
- Long-term intermittent hypoxia in mice induces inflammatory pathways implicated in sleep apnea and steatohepatitis in humans
- Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease
- Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)
- Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
- Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
- Lysosomal storage, impaired autophagy and innate immunity in Gaucher and Parkinson's diseases: insights for drug discovery
- Multiparametric magnetic resonance imaging of the liver and spleen in Gaucher disease
- Multivalent pyrrolidines acting as pharmacological chaperones against Gaucher disease
- New Antibodies to Advance Glucocerebrosidase Research
- Peripheral Neuropathy in Patients with Hepatitis C Infection-Reversibility after HCV Eradication: A Single Center Study
- Phase 1 Healthy Volunteer Study of AL01211, an Oral, Non-brain Penetrant Glucosylceramide Synthase Inhibitor, to Treat Fabry Disease and Type 1 Gaucher Disease
- Phenotypic consequences of GBA1 pathological variant R463C (p.R502C)
- Posterior Segment Changes in Gaucher Disease
- Protective Effects of Coptis chinensis Rhizome Extract and Its Constituents (Berberine, Coptisine, and Palmatine) against α-Synuclein Neurotoxicity in Dopaminergic SH-SY5Y Cells
- Proteomics analysis of the brain from a Gaucher disease mouse identifies pathological pathways including a possible role for transglutaminase 1
- Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review
- Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project
- Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa
- Regression of smoldering myeloma with treatment of Gaucher disease
- Role of Natural Killer T (NKT) Cells in Myeloma Biology and Therapy
- Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease
- Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa
- Soluble mannose receptor: A potential biomarker in Gaucher disease
- Taliglucerase alfa in the longterm treatment of children and adolescents with type 1 Gaucher disease: the Albanian experience
- The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease
- The international cooperative Gaucher group (ICCG) Gaucher registry
- The lysosomal β-glucocerebrosidase strikes mitochondria: implications for Parkinson's therapeutics
- The role of cardiac imaging in assessing the cardiac involvement of type 1 Gaucher disease: a case report with review of literature
- The use of Ambroxol for the treatment of Gaucher disease: A systematic review
- Type 1 Gaucher's Disease. A Rare Genetic Lipid Metabolic Disorder Whose Diagnosis Was Concealed by Recurrent Malaria Infections in a 12-Year-Old Girl
- Uncovering a New Family Cluster of Gaucher Disease: A Case Report
- Uncovering the Challenges of Rare Diseases: Insights From a Retrospective Cross-Sectional Study in Albania (2005-2022)
- Validation of a Novel Method to Assess the Clinical Quality of Information in Pregnancy-Related Pharmacovigilance Case Reports: A ConcePTION Project
- Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS()) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data
- Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS<sup>®</sup>) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data
- Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis
- Venglustat in GBA1-related Parkinson's disease
- What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview
- Women with Gaucher Disease