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Prevalence of type I Gaucher disease in patients with smoldering or multiple myeloma: Results from the prospective, observational CHAGAL study.
Hemasphere
January 2025
Hematology Unit, AOU delle Marche Ancona Italy.
Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder.
Biochem Biophys Rep
December 2024
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Gaucher disease (GD) is a metabolic disorder caused by mutations in the , located on 1q22. This gene encodes glucocerebrosidase (glucosylceramidase) enzyme. GD has a wide range of clinical manifestations from a perinatally lethal type to an asymptomatic form.
View Article and Find Full Text PDFThe Diagnosis and Therapy of Osteoporosis in Gaucher Disease.
Calcif Tissue Int
January 2025
Fondazione FIRMO Onlus, Italian Foundation for the Research On Bone Diseases, Florence, Italy.
Gaucher disease is a rare lysosomal storage disorder characterized by the accumulation of glucocerebroside lipids within multiple organs due to a deficiency of the lysosomal enzyme (acid β-glucosidase). It is an inherited autosomal recessive disease. The onset of symptoms can vary depending on disease type and severity, with milder forms presenting in adulthood.
View Article and Find Full Text PDFInsights into skeletal involvement in adult Gaucher disease: a single-center experience.
J Bone Miner Metab
January 2025
Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, 35040, Turkey.
Introduction: Gaucher disease (GD) is a lysosomal storage disorder causing systemic and skeletal complications. This study evaluates bone health in adult GD type 1 patients, focusing on skeletal complications, bone mineral density (BMD), and biochemical markers.
Material And Methods: A cohort of adult GD type 1 patients followed up at Ege University Pediatric Metabolism Department were retrospectively examined.
A Case of Hodgkin Lymphoma in a Gaucher Disease Patient: Distinguishing Gaucher and Pseudo-Gaucher Cells.
Am J Hematol
January 2025
Dipartimento di Scienze Cliniche e di Comunità, Dipartimento di Eccellenza 2023-2027, University of Milan, Milan, Italy.
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