Associated Papers
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
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
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2025
Thyroid Function and Morphology in Gaucher Disease: Exploring the Endocrine Implications.
Kałużna M et al.
International Journal of Molecular Sciences, 2024
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
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
Long-term eliglustat treatment of Gaucher patients over up to 10 years in Vienna.
Stulnig TM
Wiener Klinische Wochenschrift, 2022
A case with Gaucher disease unable to reach enzyme replacement therapy because of COVID-19 quarantine: The first case from Turkey.
Yekedüz MK et al.
Turkish Archives of Pediatrics, 2021
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
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz G et al.
Jimd Reports, 2020
Molecular regulations and therapeutic targets of Gaucher disease.
Chen Y et al.
Cytokine & Growth Factor Reviews, 2018
Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.
Ortiz-Cabrera NV et al.
Molecular Genetics and Metabolism Reports, 2016
Lysosomal Storage Disorders in Egyptian Children.
Elmonem MA et al.
Indian Journal of Pediatrics, 2016
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Ankleshwaria C et al.
Journal of Human Genetics, 2014
Clinical utility of different bone marrow examination methods in the diagnosis of adults with sporadic Gaucher disease type 1.
Machaczka M et al.
Polskie Archiwum Medycyny Wewnetrznej, 2014
Substrate reduction therapy with miglustat for type 1 Gaucher disease: a retrospective analysis from a single institution.
Machaczka M et al.
Upsala Journal of Medical Sciences, 2012
Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.
Balwani M et al.
Journal of Inherited Metabolic Disease, 2011
Monitoring of Gaucher patients with a novel chitotriosidase assay.
Schoonhoven A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007