The dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer.

Development and optimization of human glucocerebrosidase-encoding mRNA for Gaucher disease therapy.

The 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.

Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease.

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation.

Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.

Stability study of pharmacy compounded high-dose ambroxol hydrochloride capsules for an n-of-1 clinical trial involving Dutch patients with Gaucher disease type 3.

Gaucher disease masked by childhood splenectomy: a forty-year diagnostic delay.

TikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study.

Development of Nickel Prussian Blue Analogue Nanoparticles Stabilizing the Glucocerebrosidase in the Treatment of Gaucher Disease (GD).

Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions.

Structural analysis of the plant glycoside hydrolase family 116 glucosylceramidase AtGCD3 by cryogenic electron microscopy.

Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.

Maternal 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.

Excess Risk of Monoclonal Gammopathy in Patients With Gaucher Disease.

Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution.

N-Alkyl Derivatives of Deoxynojirimycin (DNJ) as Antiviral Agents: Overview and Update.

Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease.

Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases.

Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups.

Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study.

Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project.

Quantitative and Comparative Assessment of Recombinant Human β-Glucocerebrosidase Uptake Bioactivity Using a Stable hMMR-Expressing CHO Cell Model.

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.

Elevated serum glucosylsphingosine level in children with obesity: relation to plasma atherogenesis.

Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis.

Modeling rare genetic skeletal disorders with bone organoids: a narrative review.

Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers.

HEPES in Cell Culture Alters the Multi-Omics Profile Exhibited by Gaucher Disease Fibroblasts.

Association between plasma glucosylsphingosine levels and dyskinesia burden in GBA1-related Parkinson's disease.

Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype.

Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care.

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of Drosophila melanogaster During Aging.

Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case-control cohort study.

[Disease severity assessment and standardized follow-up for Gaucher disease].

Crossing the barrier: nanomedicine as a frontier therapy for neuropathic Gaucher disease type 3.

Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.

Commentary on Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease.

Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease.

Lysosomal storage diseases in North America: a comprehensive review of enzyme therapies and unmet needs.

Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies.

The Race to Salvage Glucocerebrosidase: Understanding Small-Molecule Therapies for GBA1-Associated Parkinsonism.

Homozygous GBA1 p.T82I variant in type 1 Gaucher disease: clinical and biochemical characterization.

Neutral sp2-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases.

Microbiome-gut-heart axis in cardiac complications of Gaucher disease type 3.

AAV gene therapy for GBA1-related diseases.

[Bone infarctions-from pathophysiology to imaging].

Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT-CDG: Expanding the Clinical Spectrum With a Novel Pathogenic Variant.

The Application of Machine-Learning Algorithms for Multiclass Classification of Microcytic Anemia Revealed That a Minimum Required Number of Hematological Parameters Is Enough to Achieve High Diagnostic Accuracy.

Transcriptomic signatures in Gaucher disease subtypes: A systems biology perspective.

GBA1 Gene-Associated Transcriptomic Signatures Reveal Risk Genes in Parkinson's Disease.

Secondary Mitochondrial Dysfunction in Gaucher Disease Type I, II and III-Review of the Experimental and Clinical Evidence.

Gaucher Disease-Correlation of Lyso-Gb1 with Haematology and Biochemical Parameters.

Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease.

Precision genomic profiling in Gaucher disease: insights from atypical presentations.

Patient-Specific Midbrain Organoids with CRISPR Correction Reveal Disease Mechanisms and Enable Therapeutic Evaluation in Neuronopathic Gaucher Disease.

Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study.

Bone involvement in Gaucher disease: Data from a North African registry.

Perinatal-Onset Neuronopathic Gaucher Disease Is Refractory to High-Dose Ambroxol: A Case Report and Literature Review.

Liver involvement in Gaucher disease type I: a retrospective single-center study from Ukraine.

Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant.

Inhibition or genetic reduction of ASAH1/acid ceramidase restore α-synuclein clearance in mutant GBA1 dopamine neurons from Parkinson's patients.

The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea.

Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation.

MyGauchTM: a patient-centered digital health app for Gaucher disease.

Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher Disease.

Sphingolipids in Gaucher disease: a systematic review.

Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience.

Cytotoxic lymphocyte effector function is unaffected in patients with Gaucher disease.

An injectable hydrogel containing N-acetylglycine for the treatment of Gaucher disease.

QSP-Copilot: An AI-Augmented Platform for Accelerating Quantitative Systems Pharmacology Model Development.

Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.

Central Roles of Glucosylceramide in Driving Cancer Pathogenesis.

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Selenoureido-N-alkyl-3,4,5-trihydroxypiperidines: probing their dual-target role in Gaucher disease.

French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.

Short- and long-term effects of transfusion in β-thalassemia: a longitudinal study of transfusion efficiency factors.

Pulmonary Manifestations of Lysosomal Storage Disorders in Adults.

Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.

Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania.

Heterogeneous bone manifestations in a patient with Gaucher disease demonstrated by 18F-FDG positron emission tomography/computed tomography (PET/CT) and Al18F-FAPI-04 PET/CT: a case description.

Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population.

Saccadic Eye Movement as a Harbinger of Gaucher's Disease in Children: A Case Report of Diagnostic Difficulty.

Real-world experience of switching to taliglucerase among patients with Gaucher disease in Québec: A case series.

Unexpected Gaucher disease in a case of steroid-resistant nephrotic syndrome.

Case Report: Clinical case analysis of gaucher disease management in a resource-limited setting: a single center experience from Kashigar, Xinjiang Uygur Autonomous Region, the Western China.

Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.

Serum hepcidin as a biomarker of treatment response in Gaucher disease.

Management of Gaucher Disease Type 1 in a Resource-Limited Setting: A Pediatric Case Study.

Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt.

A Common PD-Risk GBA1 Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial Dysfunction.

Splenic Artery Aneurysm in Gaucher Disease: A Hybrid Study Combining Case Report, Scoping Review, and Clinical Survey.

Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.

Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.

A large long-term database of Gaucher disease patients demonstrates increased risk of lymphoma and myeloma, but not of solid tumours.

A surgical challenge: correcting hallux duplication and syndactyly in a pediatric patient with Gaucher disease and unprecedented skeletal manifestations.

Effect of Exposure to Enzyme Replacement Therapy on Bone Mineral Density in Children With Gaucher Disease.

Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis.

Clinical features and infection risks of Chinese children with different types of Gaucher disease.

Periodontal Manifestations of Systemic Diseases.

Clinical utility of bone marrow biopsy and significance of early diagnosis of Gaucher's disease.

In silico biophysics and rheology of blood and red blood cells in Gaucher Disease.

Pre-retinal deposits in Type 1 Gaucher disease.

Case Report: A case of surgical and enzyme replacement therapy for type I Gaucher disease complicating femoral shaft pathological fracture.

Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives.

Addition of Lyso-Gb1 to enzyme activity to first-tier test for Gaucher in DBS improves diagnostic accuracy and reduces patient recall rate.

Autologous genome-edited hematopoietic stem cells correct Gaucher disease and establish a platform for clinical translation.

The Double Toxic MPTP+CBE Presymptomatic Parkinson-Like Phenotype in Mice.

A pathogenic alpha synuclein variant exacerbates disease progression in a neuron-specific Gba-KO mouse.

Medical Expert Knowledge Meets AI to Enhance Symptom Checker Performance for Rare Disease Identification in Fabry Disease: Mixed Methods Study.

Epigenetic Profiling of Cell-Free DNA in Cerebrospinal Fluid: A Novel Biomarker Approach for Metabolic Brain Diseases.

Multiorgan fibrosis in Gaucher disease type I: an unmet goal of enzyme replacement therapy.

Glucosylsphingosine affects mitochondrial function in a neuronal cell model.

Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.

High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results.

Development of a Lentiviral Vector for High-Yield Production of Synthetic and Recombinant GCase for Gaucher Disease Therapy.

Prosaposin: A Multifaceted Protein Orchestrating Biological Processes and Diseases.

Efficacy of Switching Therapy From Alglucosidase Alfa to Avalglucosidase Alfa on Respiratory Function in Participants With Late-Onset Pompe Disease: A Post Hoc Analysis From the COMET Trial.

Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report.

Evaluation and study of adverse reactions to imiglucerase based on the FAERS database.

Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis.

Increased Lyso-Gb1 Levels in an Obese Splenectomized Gaucher Disease Type 1 Patient Treated with Eliglustat: Unacknowledged Poor Compliance or Underlying Factors.

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Age-related inflammatory biomarkers in early-onset osteoporosis in females with Gaucher disease.

Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by β-glucocerebrosidase deficiency in GBA1 isogenic dopaminergic neurons from a patient with Gaucher disease and parkinsonism.

Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease: Authors' Reply.

LIMP-2 deficiency-associated glycolipid abnormalities in mice.

Glucosylsphingosine is a potential fluid-based biomarker of lysosomal dysfunction in Cln3Δex7/8 mice.

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease.

Expression Profiles of Exosomal miRNAs in Gaucher Patients and Their Association With Severity of Bone Involvement.

Gaucher disease, state of the art and perspectives.

Systemically delivered lipid nanoparticle-mRNA encoding lysosomal acid β-glucosidase restores the enzyme deficiency in a murine Gaucher disease model.

Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease: Correspondence.

The clinical utility of neurofilament light chain for early detection and prediction of disease burden and severity in neuronopathic Gaucher disease.

Evaluation of Induced Pluripotent Stem Cell-Derived Dopaminergic Neurons from Siblings with Gaucher Disease Discordant for Parkinsonism.

Dissecting the biological impact of GBA1 mutations using multi-omics in an isogenic setting.

Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease.

Prodromal Parkinsonian Features in Carriers of Gaucher Disease Compared to Controls.

The Hidden Burden: Gastrointestinal Involvement in Lysosomal Storage Disorders.

Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program.

Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.

A Randomized, Double-Blind, 2-Treatment, 2-Period, Crossover Phase 1 Study to Compare the Pharmacokinetics, Safety and Tolerability of 60 IU/Kg of Abcertin and Cerezyme in Healthy Volunteers Following a Single Intravenous Administration.

Olfactory Perception in Parkinson's Disease: The Impact of GBA1 Variants (Sidransky Syndrome).

Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert.

Broken Balance: Emerging Cross-Talk Between Proteostasis and Lipostasis in Neurodegenerative Diseases.

Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait.

SplenoMegaly study (SMS): exploring the etiologies for "unexplained" splenomegalies in the real world.

The most common structural variant expected at the GBA1 locus may be detected by a simple amplification method: Implications for screening Parkinson's disease variants.

The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.

A Multiomic Network Approach to Uncover Disease Modifying Mechanisms of Inborn Errors of Metabolism.

Audiovestibular Findings in Gaucher Disease Types I and III: Evidence of Vestibular Involvement in GD1.

Cost-effectiveness analysis of ambroxol for the treatment of Chinese patients with Gaucher disease.

Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy.

Developing nanobodies as allosteric molecular chaperones of glucocerebrosidase function.

Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease.

Newborn Screening for Gaucher Disease: The New Jersey Experience.

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.

A novel allosteric GCase modulator prevents Tau accumulation in GBA1WT and GBA1L444P/L444P cellular models.

Hyperuricaemia in type 1 Gaucher disease: is uric acid a biomarker for disease severity?

Autophagic dysregulation triggers innate immune activation in glucocerebrosidase deficiency.

[Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum].

An analysis of bone marrow burden scores in a retrospective analysis of adult patients with type 1 Gaucher disease.

Light-responsive glycosidase inhibitors: Tuning enzyme selectivity and switching factors through integrated chemical and optoglycomic strategies.

Plant molecular farming: a promising frontier for orphan drug production.

Efficient GBA1 editing via HDR with ssODNs by outcompeting pseudogene-mediated gene conversion upon CRISPR/Cas9 cleavage.

Allosteric Modulation of GCase Enhances Lysosomal Activity and Reduces ER Stress in GCase-Related Disorders.

Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades.

FLT201, a novel liver-directed AAV gene therapy candidate for Gaucher disease type 1.

250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlation.

AAV delivery of GBA1 suppresses α-synuclein accumulation in Parkinson's disease models and restores functions in Gaucher's disease models.

Identification of Novel Mutations in Patients Affected by Gaucher Disease.

Investigation of the Oxidative Process by Measuring Total Antioxidant Capacity and Total Oxidant Capacity in Patients with Gaucher Disease.

Gaucher Disease: Hope on the Horizon!

Assessing the Value for Money of Enzyme Replacement Therapy in Gaucher Disease Types 1 and 3b: Can Expanded Coverage Be Justified?

Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders.

Product Development of High-Dose Ambroxol HCl Capsules for an n-of-1 Clinical Trial Involving Dutch Patients with Gaucher Disease Type 3.

Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies.

Sphingolipidoses: expanding the spectrum of α-synucleinopathies.

Sidransky Syndrome-GBA1-Related Parkinson's Disease and Its Targeted Therapies.

[Results of a prospective observational study of imiglucerase biosimilar in adults with type I Gaucher disease].

Atypical case of neonatal-onset Gaucher disease type 3b: A case report.

Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study.

Electroencephalogram and phenotype patterns in neuronopathic Gaucher disease patients - ten years of experience in a single center.

Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment.

Rare biochemical & genetic conditions: clues for broader mechanistic insights.

Clinical and Laboratory Characteristics of Gaucher Disease Caused by Complex Heterozygous Mutation.

AAV-mediated GBA1 and GDNF rescue neurological defects in a murine model of neuronopathic Gaucher disease.

Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion.

Pharmacogenomics and rare diseases: optimizing drug development and personalized therapeutics.

A novel mouse model of chronic neuronopathic Gaucher disease exhibits Parkinson's disease-like phenotypes.