Results 1 to 10 of about 9,175 (221)

Gaucher-like Cells in Thalassemia Intermedia: Is It a Challenge?

Diseases, 2023
We describe two cases of thalassemia intermedia (TI) patients with the presence of Gaucher-like cells in hematopoietic tissue biopsies, raising diagnostic dilemmas. The first is a 56-year-old female with bone lesions, splenomegaly, hypochromic microcytic
Veroniki Komninaka, Pagona Flevari, Georgios Karkaletsis, Theodoros Androutsakos, Theofili Karkaletsi, Ioannis Ntanasis-Stathopoulos, Evaggelia-Eleni Ntelaki, Evangelos Terpos   +7 more
doaj   +5 more sources

Gaucher Disease and Gaucher Cells [PDF]

Turkish Journal of Hematology, 2015
Sevgi Gözdaşoğlu
doaj   +3 more sources

Phagocytosis of Erythrocytes from Gaucher Patients Induces Phenotypic Modifications in Macrophages, Driving Them toward Gaucher Cells. [PDF]

Int J Mol Sci, 2022
Gaucher disease (GD) is caused by glucocerebrosidase deficiency leading to the accumulation of sphingolipids in macrophages named “Gaucher’s Cells”. These cells are characterized by deregulated expression of cell surface markers, abnormal secretion of ...
Dupuis L, Chauvet M, Bourdelier E, Dussiot M, Belmatoug N, Le Van Kim C, Chêne A, Franco M.   +7 more
europepmc   +3 more sources

Gaucher Cells or Pseudo-Gaucher Cells: That's the Question [PDF]

Turkish Journal of Hematology, 2014
Deniz Gören Şahin, Hava Üsküdar Teke, Mustafa Karagülle, Neslihan Andıç, Eren Gündüz, Serap Işıksoy, Olga Meltem Akay   +6 more
doaj   +4 more sources

Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3

Neurobiology of Disease, 2003
Patients with Gaucher disease have been classified as type 1 nonneuronopathic, type 2 acute neuronopathic, and type 3 chronic neuronopathic phenotypes. Increased quantities of glucocerebroside and glucosylsphingosine (glucopsychosine) are present in the ...
U.H Schueler, T Kolter, C.R Kaneski, J.K Blusztajn, M Herkenham, K Sandhoff, R.O Brady   +6 more
doaj   +3 more sources

Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions [PDF]

Orphanet Journal of Rare Diseases
Background Gaucher disease is a rare lysosomal storage disorder caused by insufficient activity of the enzyme β-glucocerebrosidase. This leads to the accumulation of fatty deposits in cells and tissues and damages multiple organ systems.
Diana Paulina Peña Aragón, Tanya Collin-Histed, Magy Abdelwahab, Jesús Villarrubia Espinosa, Raul Chertkoff, Andre Balzekiene, Jessica Pacey   +6 more
doaj   +2 more sources

Gaucher or pseudo-Gaucher cells. [PDF]

Blood Res
Kaur G, Ahuja A, Vishwananthan GK, Sen A.   +3 more
europepmc   +3 more sources

Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma [PDF]

Journal of Clinical and Diagnostic Research, 2017
Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis.
Jyoti Ramnath Kini, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai   +4 more
doaj   +1 more source

Gaucher’s Cells in Thalassemia [PDF]

Blood, 1971
Abstract Gaucher or Gaucher-like cells are described in the spleen and bone marrow of patient with thalassemia major, by light and electron microscopy. The ultrastructure shows intracytoplasmic tubules and phagocytosis of mature and immature erythrocytes. The spleen has an increase in monohexosyl ceramide.
E C, Zaino, M B, Rossi, T D, Pham, H A, Azar   +3 more
openaire   +2 more sources

The Submicroscopic Morphology of Gaucher Cells [PDF]

Blood, 1957
Abstract The large cells characteristically found in the bone marrow and other organs in Gaucher’s disease have been reinvestigated with the electron microscope, as well as with phase contrast and polarizing microscopes and by standard staining methods.
Q B, DEMARSH, J, KAUTZ
openaire   +2 more sources