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| 36469032 | Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1. | Genetics in Medicine | 2023 |
| 36256599 | Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial. | Brain | 2023 |
| 37249220 | Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center. | | 2023 |
| 34412940 | The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system. | Molecular Genetics and Metabolism | 2022 |
| 36244992 | Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. | Orphanet Journal of Rare Diseases | 2022 |
| 35369888 | Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise. | Orphanet Journal of Rare Diseases | 2022 |
| 35933791 | Therapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science. | Molecular Genetics and Metabolism | 2022 |
| 36054609 | Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry. | American Journal of Hematology | 2022 |
| 35535294 | Transjugular Intrahepatic Portosystemic Shunt for Refractory Ascites in Gaucher Disease. | | 2022 |
| 34820281 | Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease. | Mol Genet Metab Rep | 2021 |
| 32001533 | Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data. | Haematologica | 2021 |
| 33485799 | Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment. | Molecular Genetics and Metabolism | 2021 |
| 34161616 | Clinical outcomes after 4.5â¿¿years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results. | American Journal of Hematology | 2021 |
| 34337151 | Miglustat Therapy for <i>SCARB2</i>-Associated Action Myoclonus-Renal Failure Syndrome. | Neurol Genet | 2021 |
| 33353808 | Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York. | Molecular Genetics and Metabolism | 2021 |
| 33419694 | Gaucher disease: Basic and translational science needs for more complete therapy and management. | Mol Genet Metab | 2021 |
| 34485083 | Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease. | Molecular Genetics and Metabolism Reports | 2021 |
| 32616389 | Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy. | Molecular Genetics and Metabolism | 2020 |
| 31698008 | Etiology of cirrhosis in the young. | Human Pathology | 2020 |
| 32044242 | Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. | Molecular Genetics and Metabolism | 2020 |
| 31816110 | The road to biosimilars in rare diseases - ongoing lessons from Gaucher disease. | American Journal of Hematology | 2020 |
| 31863603 | Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. | Hepatology | 2020 |
| 32438452 | Real-world effectiveness of eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry. | American Journal of Hematology | 2020 |
| 31358474 | Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease. | Molecular Genetics and Metabolism | 2019 |
| 30514648 | Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). | Molecular Genetics and Metabolism | 2019 |
| 31233632 | Gaucher Disease in Bone: From Pathophysiology to Practice. | Journal of Bone and Mineral Research | 2019 |
| 31029022 | Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. | Blood Cells, Molecules, and Diseases | 2019 |
| 31222768 | Exome Sequencing in Clinical Hepatology. | Hepatology | 2019 |
| 31378425 | Reply to: "Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges". | Journal of Hepatology | 2019 |
| 31363476 | Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report. | World Journal of Clinical Cases (discontinued) | 2019 |
| 31000363 | Clinical utility of genomic analysis in adults with idiopathic liver disease. | Journal of Hepatology | 2019 |
| 31334026 | Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease. | Respiratory Medicine Case Reports | 2019 |
| 31309038 | Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy. | Molecular Genetics and Metabolism Reports | 2019 |
| 28003098 | Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease. | Blood Cells, Molecules, and Diseases | 2018 |
| 29187290 | Therapeutic position of eliglustat. | Blood Cells, Molecules, and Diseases | 2018 |
| 29669929 | Antigen-mediated regulation in monoclonal gammopathies and myeloma. | JCI insight | 2018 |
| 29650800 | MGUS, lymphoplasmacytic malignancies, and Gaucher disease: the significance of the clinical association. | Blood | 2018 |
| 29423829 | Hepatocellular carcinoma in Gaucher disease: an international case series. | Journal of Inherited Metabolic Disease | 2018 |
| 29503270 | Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. | Indian Pediatrics | 2018 |
| 29680197 | Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. | Blood Cells, Molecules, and Diseases | 2018 |
| 27866832 | Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues. | Mol Genet Metab | 2017 |
| 28427477 | Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data. | Systematic Reviews | 2017 |
| 28762527 | Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. | American Journal of Hematology | 2017 |
| 28847804 | Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease. | Journal of Neuroscience | 2017 |
| 28406489 | Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. | Genetics in Medicine | 2017 |
| 28569047 | 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. | American Journal of Hematology | 2017 |
| 27008195 | Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders. | JIMD Reports | 2017 |
| 27916601 | Gaucher disease: Progress and ongoing challenges. | Molecular Genetics and Metabolism | 2017 |
| 28040394 | Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. | Molecular Genetics and Metabolism | 2017 |
| 27491209 | Overcoming the Next Barriers to Successful Therapy. | Pediatric Endocrinology Reviews | 2016 |