Results 21 to 30 of about 16,645,960 (212)

Mitochondria and quality control defects in a mouse model of Gaucher Disease-links to Parkinson's Disease [PDF]

, 2013
Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD).
Duchen, Michael R., Gegg, ME, Osellame, LD, Gegg, Matthew E., Osellame, Laura D., Richard-Londt, A, Hargreaves, Iain P., Brandner, Sebastian, Brandner, S, Richard-Londt, Angela, Waddington, Simon N., Hargreaves, IP, Waddington, SN, Schapira, AHV, Rahim, AA, Rahim, Ahad A., Duchen, MR, Schapira, AH, Schapira, Anthony H.V.   +18 more
core   +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

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease

Haematologica, 2018
Gaucher disease (GD) is an inherited deficiency of glucocerebrosidase leading to accumulation of glucosylceramide in tissues such as the spleen, liver, and bone marrow.
Thibaud Lefebvre, Niloofar Reihani, Raed Daher, Thierry Billette de Villemeur, Nadia Belmatoug, Christian Rose, Yves Colin-Aronovicz, Hervé Puy, Caroline Le Van Kim, Mélanie Franco, Zoubida Karim   +10 more
doaj   +1 more source

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

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, Daniel K. Borger, Richard J. Grey, Martha Kirby, Stacie Anderson, Grisel Lopez, Ellen Sidransky   +6 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

Gaucher disease in a patient with membranoproliferative glomerulonephritis: case report

BMC Nephrology, 2023
Background Gaucher disease (GD) is a rare autosomal recessive inherited, lysosomal storage disoder that involves liver, spleen, lung, bone, bone marrow even central nervous. However, GD associated membranoproliferative glomerulonephritis (MPGN) is seldom
Mengjun Liang, Shiyan Zhu, Shaoqin Liu, Jianquan Chen, Danni Li, Chengzhi Luo, Xiaowen Wang, Zongpei Jiang   +7 more
doaj   +1 more source