Results 61 to 70 of about 12,191 (186)
Efferocytosis is impaired in Gaucher macrophages
Haematologica, 2017 Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is characterized by the presence of glucosylceramide-laden macrophages resulting from impaired digestion of aged erythrocytes or apoptotic leukocytes.
Elma Aflaki +6 more
doaj +1 more source
Proteomic Signatures of Noise‐Induced Hearing Loss in the Mouse Cochlea
Cell Biology International, Volume 50, Issue 10, October 2026.ABSTRACT Hearing loss affects over 1.5 billion people worldwide and has substantial social, educational, and economic consequences. Although genetic studies have identified numerous hearing‐loss‐associated genes, the molecular changes accompanying noise‐induced hearing loss (NIHL) remain incompletely understood.
Ana Carla Batissoco +6 more
wiley +1 more source
Dental profile of patients with Gaucher disease
BMC Oral Health, 2003 Background This study was conducted to determine whether patients with Gaucher disease had significant dental pathology because of abnormal bone structure, pancytopenia, and coagulation abnormalities.
Mann Jonathan +4 more
doaj +1 more source
A 30-Year-Old Carrier of Gaucher Disease with Multiple Myeloma
Case Reports in Oncological Medicine, 2019 We are reporting a case of a 30-year-old male with no past medical history who presented with new onset of renal failure, anemia, and splenomegaly and was diagnosed with multiple myeloma.
Juskaran Chadha +3 more
doaj +1 more source
Haematologica, 2009 There are few published data from real-world clinical experience with miglustat (Zavesca®), an oral inhibitor of glucosylceramide synthase, in type 1 Gaucher disease.
Pilar Giraldo +9 more
doaj +1 more source
Action Spectroscopy of Mass‐Selected Ions—From Principles to Applications
Journal of Mass Spectrometry, Volume 61, Issue 10, October 2026.ABSTRACT Gas‐phase ion spectroscopy provides direct, structure‐sensitive information that complements and extends conventional mass spectrometry workflows, offering structural resolution that accurate mass and fragmentation patterns alone cannot always achieve by themselves.
Pedro Henrique Martins Garcia +4 more
wiley +1 more source
Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization
The FASEB Journal, Volume 40, Issue 17, 15 September 2026.Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde +2 more
wiley +1 more source
Torsion of a wandering spleen in an adolescent with Gaucher disease
The Turkish Journal of Gastroenterology, 2017 A wandering spleen is a rare condition characterized by the malposition of the spleen due to laxity or absence of its supporting ligaments. Although Gaucher disease generally presents with massive splenomegaly, which one of the predisposing causes of a ...
Şükrü Güngör +4 more
doaj +1 more source
Quantification of glucosylceramide in plasma of Gaucher disease patients
Brazilian Journal of Pharmaceutical Sciences, 2010 Gaucher disease is a sphingolipidosis that leads to an accumulation of glucosylceramide. The objective of this study was to develop a methodology, based on the extraction, purification and quantification of glucosylceramide from blood plasma, for use in ...
Maria Viviane Gomes Muller +7 more
doaj +1 more source
Orphanet Journal of Rare DiseasesBackground Gaucher disease (GD) is a lysosomal disease caused by mutations in the GBA1 gene, leading to glucosylceramide and glucosylsphingosine accumulation.
Sebile Kilavuz +16 more
doaj +1 more source