Associated Papers
Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.
Carubbi F et al.
International Journal of Molecular Sciences, 2026
Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.
Beauregard-Lacroix É et al.
Molecular Genetics and Metabolism Reports, 2025
Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher Disease.
Cheung C et al.
Molecular Genetics and Metabolism, 2025
Newborn Screening for Gaucher Disease: The New Jersey Experience.
Menello C et al.
International Journal of Neonatal Screening, 2025
Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders.
Vinci M et al.
Biomedicines, 2025
Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated.
Rossi C et al.
Children (basel, Switzerland), 2025
Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-Up.
Nasce A et al.
Journal of Inherited Metabolic Disease, 2025
Eliglustat and cardiac comorbidities in Gaucher disease: a pharmacogenomic approach to safety and efficacy.
Ain NU et al.
Frontiers in Medicine, 2025
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
Elstein D et al.
Journal of Clinical Medicine, 2024
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.
Vernet Machado Bressan Wilke M et al.
International Journal of Molecular Sciences, 2024
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
Malinová V et al.
International Journal of Molecular Sciences, 2023
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.
Curado F et al.
Diagnostics (basel, Switzerland), 2023
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.
Pession A et al.
Orphanet Journal of Rare Diseases, 2023
Genetic variants of GBA and GLA in a Turkish cohort of Parkinson's disease: A preliminary report.
Yekedüz MK et al.
Parkinsonism & Related Disorders, 2023
Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.
Dubiela P et al.
Biomolecules, 2023
Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1.
Peterschmitt MJ et al.
Molecular Genetics and Metabolism, 2023
A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.
Jilani H et al.
Clinical Case Reports, 2022
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Dinur T et al.
International Journal of Molecular Sciences, 2022
Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study.
Reynolds TM et al.
International Journal of Clinical Practice, 2021
The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland.
Savolainen MJ et al.
Molecular Genetics and Metabolism Reports, 2021
Genetic characterization of the Albanian Gaucher disease patient population.
Cullufi P et al.
Jimd Reports, 2021
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.
Abell K et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease.
Serratrice C et al.
Journal of Clinical Medicine, 2020
Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family.
Cullufi P et al.
Molecular Genetics and Metabolism Reports, 2019