• 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 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 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 of type 3 Gaucher disease: unique neurological manifestations and advances in 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
• 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 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
• Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data
• 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
• Clinical-radiological-pathological correlation in pulmonary hypertension with unclear and/or multifactorial mechanisms
• Coinheritance of non-deletional hemoglobin H disease with sickle cell trait
• 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 and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan
• 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
• 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
• Efficacy of an AAV vector encoding a thermostable form of glucocerebrosidase in alleviating symptoms in a Gaucher disease mouse model
• 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
• Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies
• Fragment-Based Discovery of a Series of Allosteric-Binding Site Modulators of β-Glucocerebrosidase
• Gaucher Disease
• Gaucher's Disease in an Adult Male: A Case Report of a Rare Mutation
• 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 flippases contribute to cellular glucosylceramide homeostasis
• 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 GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction
• 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
• Immunophenotype associated with high sustained antibody titers against enzyme replacement therapy in infantile-onset Pompe disease
• Importance of lysosomal storage diseases in rheumatology
• Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease
• Inherited metabolic disorders in Cyprus
• Lafora Disease
• Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy
• 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 Outcomes of Disease Modifying Therapies in Gaucher Disease
• 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 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
• 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
• 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
• 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
• Phase 1 Healthy Volunteer Study of AL01211, an Oral, Non-brain Penetrant Glucosylceramide Synthase Inhibitor, to Treat Fabry Disease and Type 1 Gaucher Disease
• Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1
• 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
• 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
• 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 of Gaucher's Disease: A Case Report and Literature Review
• Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa
• 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
• 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 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
• 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
• 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)
• Upregulation of peroxisome proliferator-activated receptor γ with resorcinol alleviates reactive oxygen species generation and lipid accumulation in neuropathic lysosomal storage diseases
• Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS()) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data