• 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 Feasibility Open-Labeled Clinical Trial Using a Second-Generation Artificial-Intelligence-Based Therapeutic Regimen in Patients with Gaucher Disease Treated with Enzyme Replacement Therapy
• A genetic cause for intractable seizures: Atypical Gaucher disease with a novel pathological variant
• A PIKfyve modulator combined with an integrated stress response inhibitor to treat lysosomal storage diseases
• A practical synthesis of nitrone-derived C5a-functionalized isofagomines as protein stabilizers to treat Gaucher disease
• A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem
• A Real-World Investigation of MRI Changes in Bone in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: The EIROS Study
• A review on Gaucher disease: therapeutic potential of beta-glucocerebrosidase-targeted mRNA/saRNA approach
• 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
• Advances in the specific treatments of Gaucher disease
• Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population
• 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
• Antireflux Procedures in Children With Neurologic Impairment: A National Survey of Physician Perspectives
• Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome
• Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre
• c.754T>A homozygous mutation described for the first time in three Moroccan patients with Gaucher disease
• Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa
• Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
• Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review
• Clinical Manifestation of Hearing Loss in a Boy with Type IIIb Gaucher Disease: A Unique Case Report
• Coinheritance of non-deletional hemoglobin H disease with sickle cell trait
• Comparative study of enriched dopaminergic neurons from siblings with Gaucher disease discordant for parkinsonism
• Comparison of different promoters to improve AAV vector-mediated gene therapy for neuronopathic Gaucher disease
• Cost-effectiveness of ambroxol in the treatment of Gaucher disease type 2
• Deep learning-based quantification of osteonecrosis using magnetic resonance images in Gaucher disease
• Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions
• Development of quantitative high-throughput screening assays to identify, validate, and optimize small-molecule stabilizers of misfolded beta-glucocerebrosidase with therapeutic potential for Gaucher disease and Parkinson's disease
• Effects of Paraquat, Dextran Sulfate Sodium, and Irradiation on Behavioral and Cognitive Performance and the Gut Microbiome in A53T and A53T-L444P Mice
• Efficacy of an AAV vector encoding a thermostable form of glucocerebrosidase in alleviating symptoms in a Gaucher disease mouse model
• Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy
• Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots
• Fragment-Based Discovery of a Series of Allosteric-Binding Site Modulators of β-Glucocerebrosidase
• 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 provides a unique window into Parkinson disease pathogenesis
• Gaucher Disease: A First Reported Adult Case in Indonesia
• Gaucher's Disease in an Adult Male: A Case Report of a Rare Mutation
• 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
• GBA1-Associated Parkinson's Disease Is a Distinct Entity
• Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease
• Genome-wide determinants of mortality and motor progression in Parkinson's disease
• Glucosylceramide accumulation in microglia triggers STING-dependent neuroinflammation and neurodegeneration in mice
• GPNMB Biomarker Levels in GBA1 Carriers with Lewy Body Disorders
• Gut dysbiosis impairs intestinal renewal and lipid absorption in Scarb2 deficiency-associated neurodegeneration
• Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3
• Histologic and ultrastructural study of intracranial Gaucheroma causing deafness in a patient with Gaucher disease type 3: Effects of substrate reduction therapy
• Identification of patient-reported outcomes measures (PROMs) and patient-reported experiences measures (PREMs) in Gaucher disease in Spain
• Imiglucerase, cholecalciferol, and bone-diet in skeletal health management of type I Gaucher disease patients: a pilot study and systematic review
• Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers
• Importance of lysosomal storage diseases in rheumatology
• Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease
• Inherited metabolic disorders in Cyprus
• Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease
• Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy
• Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry
• Long-Term Treatment of Gaucher Disease with Velaglucerase Alfa in ERT-Naive Patients from the Gaucher Outcome Survey (GOS) Registry
• Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management
• Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
• Molecular mechanisms of the ambroxol action in Gaucher disease and GBA1 mutation-associated Parkinson disease
• Multiparametric magnetic resonance imaging of the liver and spleen in Gaucher disease
• Multivalent pyrrolidines acting as pharmacological chaperones against Gaucher disease
• Nanoparticles for inducing Gaucher disease-like damage in cancer cells
• Neurological symptoms in adults with Gaucher disease: a systematic review
• Neuronopathic Gaucher disease: Rare in the West, common in the East
• Newborn Screening for 6 Lysosomal Storage Disorders in China
• Oral health status of Egyptian children with lysosomal storage diseases: An evaluation of dental indices, salivary cytokines level, and bacterial bioburden
• Patients with Gaucher disease display systemic elevation of ACE2, which is impacted by therapy status and genotype
• Peripheral Neuropathy in Patients with Hepatitis C Infection-Reversibility after HCV Eradication: A Single Center Study
• Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral AL01211 in Healthy Chinese Volunteers
• Phenotypic consequences of GBA1 pathological variant R463C (p.R502C)
• Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1
• Protective Effects of Coptis chinensis Rhizome Extract and Its Constituents (Berberine, Coptisine, and Palmatine) against α-Synuclein Neurotoxicity in Dopaminergic SH-SY5Y Cells
• Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP)
• Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review
• Role of Natural Killer T (NKT) Cells in Myeloma Biology and Therapy
• Skeletal Manifestations of Gaucher's Disease: A Case Report and Literature Review
• Skin alpha-Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease
• sp²-Iminosugar azobenzene O-glycosides: Light-sensitive glycosidase inhibitors with unprecedented tunability and switching factors
• Synthesis and glycosidase inhibition of 3,4,5-trihydroxypiperidines using a one-pot amination-cyclisation cascade reaction
• Systematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems
• Taliglucerase alfa in the longterm treatment of children and adolescents with type 1 Gaucher disease: the Albanian experience
• The annotation of <em>GBA1</em> has been concealed by its protein-coding pseudogene <em>GBAP1</em>
• The Etiologic Landscape of Lymphoproliferation in Childhood: Proposal for a Diagnostic Approach Exploring from Infections to Inborn Errors of Immunity and Metabolic Diseases
• The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease
• The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment
• 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
• Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry
• Twice weekly dosing with Sebelipase alfa (Kanuma) rescues severely ill infants with Wolman disease
• Upregulation of peroxisome proliferator-activated receptor γ with resorcinol alleviates reactive oxygen species generation and lipid accumulation in neuropathic lysosomal storage diseases
• Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis
• What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview
• Women with Gaucher Disease