Results 21 to 30 of about 9,175 (221)

Gaucheroma of Mesenteric Lymph Nodes and Their Ultrasound Appearance: A Case Report

Journal of the Belgian Society of Radiology, 2023
Gaucher disease represents the largest lysosomal storage disease group worldwide. Possible complications include the development of Gaucheromas, pseudotumors resulting from an accumulation of Gaucher cells. Gaucheromas can affect the liver, spleen, bones,
Thomas Saliba, Paolo Simoni, Aurélie Empain, Alessandro De Leucio   +3 more
doaj   +1 more source

Gaucher disease diagnosed after bone marrow trephine biopsy — a report of two cases

Folia Histochemica et Cytobiologica, 2011
The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy.
Anna Dmoszyńska, Tomasz Gromek, Anna Tylki-Szymańska, Waldemar Tomczak, Barbara Czartoryska, Danuta Skomra, Bożena Sokołowska   +6 more
doaj   +1 more source

Carbohydrate Physicochemical Properties: The Innate Hydrogen Bond Donating Capacities of α‐Glucoside and α‐Galactoside Alcohol Groups

Angewandte Chemie, EarlyView.
Experimental determination of the innate hydrogen bond donating capacities of the glucose and galactose non‐anomeric alcohols revealed significant variations depending on position and relative configuration, which were quantified on the pKAHY scale, relevant for MedChem purposes, hence providing another tool toward rational glycomimetic development ...
Mrinal Naskar, Zhong Wang, Krunal Patel, Branko De Baets, Anaïs Goupille, Davy Sinnaeve, Eric Renault, Jean‐Yves Le Questel, Bruno Linclau   +8 more
wiley   +2 more sources

Morbus gaucher: A report of two cases [PDF]

Vojnosanitetski Pregled, 2006
Backround. Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918).
Đokić Milomir
doaj   +1 more source

A case of motor neuron involvement in Gaucher disease

Molecular Genetics and Metabolism Reports, 2019
Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive ...
V. Pozzilli, F. Giona, M. Ceccanti, C. Cambieri, V. Frasca, E. Onesti, L. Libonati, S. Di Bari, I. Fiorini, L. Cardarelli, M. Santopietro, M. Inghilleri   +11 more
doaj   +1 more source

Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease.

PLoS ONE, 2019
Gaucher and Fabry diseases are the most prevalent sphingolipidoses. Chronic inflammation is activated in those disorders, which could play a role in pathogenesis.
Andrea N Crivaro, Juan M Mucci, Constanza M Bondar, Maximiliano E Ormazabal, Romina Ceci, Calogera Simonaro, Paula A Rozenfeld   +6 more
doaj   +1 more source

Gaucher Disease Involving Virchow’s Lymph Node: a Case Report

Folia Medica, 2018
Gaucher disease is a metabolic storage disorder caused by a mutation in the lysosomal enzyme B-glucocerebrosidase. This disease is usually manifested in new born infants, however, an exceptional case of this disease in adult has been recently reported. A
Zinovkin Dmitry A., Pranjol Md Zahidul Islam, Kravchenko Dmitry, Kravchenko Olga, Kudryashov Vadim   +4 more
doaj   +1 more source

Histologic and ultrastructural study of intracranial Gaucheroma causing deafness in a patient with Gaucher disease type 3: Effects of substrate reduction therapy

Molecular Genetics and Metabolism Reports
Hearing loss is frequently associated with Gaucher disease (GD). Gaucher cells are enlarged reticuloendothelial cells containing glucocerebroside in the lysosomes due to deficiency of the glucocerebrosidase.
Shoji Yano, Rachel McGowan, Mikako Warren   +2 more
doaj   +1 more source

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

, 2013
Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as
Rolfs, A, Hermann Mascher, Boettcher, T, Anne-Katrin Giese (440558), Wittstock, M, Huebner, R, Roehle, A, Arndt Rolfs (140849), Zimran Ari, Deborah Elstein (487463), Mascher Hermann, Deborah Elstein, Ari Zimran, Röhle Anja, Wittstock Matthias, Arndt Rolfs, Grittner Ulrike, Tobias Böttcher (451245), Grittner, U, Jan Lukas, Rolfs Arndt, Jan Lukas (338014), Rayk Hübner (487464), Rayk Hübner, Uta Gölnitz, Ales Dudesek, Lukas Jan, Anja Röhle, Daniel Mascher (487462), Meyer, W, Tobias Böttcher, Giese, A-K, Mascher Daniel, Giese Anne-Katrin, Hermann Mascher (440562), Anne-Katrin Giese, Goelnitz, U, Daniel Mascher, Dudesek Ales, Ulrike Grittner, Uta Gölnitz (87824), Zimran, A, Matthias Wittstock (487467), Mascher, H, Elstein, D, Dudesek, A, Gölnitz Uta, Matthias Wittstock, Böttcher Tobias, Hübner Rayk, Ulrike Grittner (440560), Mascher, D, Ari Zimran (266246), Lukas, J, Wolfgang Meyer, Meyer Wolfgang, Wolfgang Meyer (440563), Elstein Deborah, Anja Röhle (487465), Ales Dudesek (487466)   +59 more
core   +1 more source

Immunological Cells and Functions in Gaucher Disease [PDF]

Critical Reviews in Oncogenesis, 2013
The macrophage (MΦ) has been the focus of causality, research, and therapy of Gaucher disease, but recent evidence casts doubt its solitary role in the disease pathogenesis. The excess of glucosylceramide (GC) in such cells accounts for some of the disease manifestations.
Manoj Kumar, Pandey, Gregory A, Grabowski   +1 more
openaire   +2 more sources