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.

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.

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

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

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

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

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

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

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

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

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

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

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

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

Eliglustat substrate reduction therapy in children with Gaucher disease type 1.

Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach.

Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden.

The Diagnosis and Therapy of Osteoporosis in Gaucher Disease.

Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.

Deciphering metabolic shifts in Gaucher disease type 1: a multi-omics study.

Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders.

Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey.

Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals.

The natural history of Gaucher disease type 1 in 31 patients over a median of 15 years: a retrospective study.

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 Real-World Investigation of MRI Changes in Bone in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: The EIROS Study.

Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.

Eliglustat exerts anti-fibrotic effects by activating SREBP2 in TGF-β1-treated myofibroblasts derived from patients with idiopathic pulmonary fibrosis.

Massive Splenomegaly with Pancytopenia in an Adult: Gaucher's Disease.

Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.

Histologically atypical case of Gaucher disease type 1.

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.

Patient reported outcomes of patients with Gaucher disease type 1 treated with eliglustat in real-world settings: The ELIPRO study.

A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients-A Qualitative and Quantitative Approach.

Rare disease patients in India are rarely involved in international orphan drug trials.

N-butyldeoxynojirimycin (miglustat) ameliorates pulmonary fibrosis through inhibition of nuclear translocation of Smad2/3.

Multiplex Quantification of Plasma Biomarkers for Patients with Gaucher Disease Type 1.

Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1.

Suicidal attempt with eliglustat overdose.

Inhibitors of Glucosylceramide Synthase.

Comprehensive and long-term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3.

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.

Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1.

Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis.

Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.

Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry.

Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry.

Recommendations for oral treatment for adult patients with type 1 Gaucher disease.

Metabolomic Study Using Time-of-Flight Mass Spectrometry Reveals Novel Urinary Biomarkers for Gaucher Disease Type 1.

Evaluation of endocrinological involvement and metabolic status in patients with Gaucher disease Type 1 and Fabry disease under enzyme replacement therapy.

Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients.

Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials.

PCA-LBD in Gaucher disease type 1: a case description.

Gaucher disease type 1: the first experience of enzyme replacement therapy in pediatric practice in Moldova - case report.

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.

Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1.

Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.

Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study).

The Successful Three-Year Outcome of Deep Brain Stimulation in Gaucher Disease Type 1 Associated Parkinson's Disease: A Case Report.

Successful treatment of Gaucher disease type 1 by enzyme replacement therapy over a 10-year duration in a Japanese pediatric patient: A case report.

The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients.

Gaucher disease type 1: Unexpected diagnosis in a 75-year old patient presenting with splenomegaly.

Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.

Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment.

Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials.

Dendritic cells and monocyte subsets in children with Gaucher disease.

Synthetic mRNA-based differentiation method enables early detection of Parkinson's phenotypes in neurons derived from Gaucher disease-induced pluripotent stem cells.

Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.

Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.

Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach.

Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease.

Optimization of Eliglustat-Based Glucosylceramide Synthase Inhibitors as Substrate Reduction Therapy for Gaucher Disease Type 3.

How a concentration-effect analysis of data from the eliglustat thorough electrocardiographic study was used to support dosing recommendations.

Consequences of treatment for hemophagocytic lymphohistiocytosis in a patient with undiagnosed Gaucher disease Type 1.

A Quantitative Systems Pharmacology Model of Gaucher Disease Type 1 Provides Mechanistic Insight Into the Response to Substrate Reduction Therapy With Eliglustat.

A novel method for preparing Eligulstat through chiral resolution.

Real-world effectiveness of eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry.

Proteomic biomarkers in Gaucher disease.

Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with clinical data and markers of disease severity.

Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1.

Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy.

Effect of eliglustat on the pharmacokinetics of digoxin, metoprolol, and oral contraceptives and absorption of eliglustat when coadministered with acid-reducing agents.

Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1.

Impact of hepatic and renal impairment on the pharmacokinetics and tolerability of eliglustat therapy for Gaucher disease type 1.

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1.

Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review.

Polyneuropathy in Gaucher disease type 1 and 3 - a descriptive case series.

Gaucher disease type 1 first recognized in an elderly patient with thrombocytopenia and lung adenocarcinoma.

Liquid chromatography-tandem mass spectrometric method for the quantification of eliglustat in rat plasma and the application in a pre-clinical study.

Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease.

Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study.

[Gaucher Disease type 1 mimicking immune thrombocytopenia: Role of hyperferritinemia and hypergammaglobulinemia in the initial evaluation of an isolated thrombopenia].

Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher disease type 1.

Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.

Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.

A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina.

Splenic Artery Aneurysms, A Rare Complication of Type 1 Gaucher Disease: Report of Five Cases.

Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency.

Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1.

Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1.

Assessment of Liver and Spleen in Children With Gaucher Disease Type 1 With Chemical Shift Imaging.

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.

Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report.

Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial.

Budget Impact Analysis of Eliglustat for the Treatment of Gaucher Disease Type 1 in the United States.

Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1.

Enzyme replacement therapy in India: Lessons and insights.

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.

Targeting Glucosylceramide Synthesis in the Treatment of Rare and Common Renal Disease.

EVALUATION OF EFFICIENCY OF IMIGLUCERASE (CEREZYME) IN THE TREATMENT OF GAUCHER DISEASE (CASE REPORTS AND REVIEW OF THE LITERATURE).

Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1.

Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports.

Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.

Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial.

Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial.

Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.

A case of improved hearing with cochlear implantation in Gaucher disease type 1.

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.

A new framework for evaluating the health impacts of treatment for Gaucher disease type 1.

Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.

A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration.

Prevalence of autoantibodies in the course of Gaucher disease type 1: A multicenter study comparing Gaucher disease patients to healthy subjects.

Could enzyme replacement therapy promote immune tolerance in Gaucher disease type 1?

Invasive group G streptococcal infection in a paediatric patient.

Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants.

Ten plus one challenges in diseases of the lysosomal system.

The modulation of inflammatory parameters, Brain-derived neurotrophic factor levels and global histone H4 acetylation status in peripheral blood of patients with Gaucher disease type 1.

Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project.

Aberrant bone marrow vascularization patterns in untreated patients with Gaucher disease type 1.

Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report.

Ferritinemia and serum inflammatory cytokines in Swedish adults with Gaucher disease type 1.

Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy.

Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial.

Clinical response to eliglustat in treatment-naïve patients with Gaucher disease type 1: Post-hoc comparison to imiglucerase-treated patients enrolled in the International Collaborative Gaucher Group Gaucher Registry.

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.

Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.

Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions.

Developing novel chemical entities for the treatment of lysosomal storage disorders: an academic perspective.

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

Eliglustat: A Review in Gaucher Disease Type 1.

Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease.

Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body MRI--A Retrospective Data Analysis.

Switching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series.

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1.

Case Report Serious pulmonary infection in a splenectomized patient with adult type 1 Gaucher disease.

Seven-year safety and efficacy with velaglucerase alfa for treatment-naïve adult patients with type 1 Gaucher disease.

Atypical cytomorphology of Gaucher cells is frequently seen in bone marrow smears from untreated patients with Gaucher disease type 1.

Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.