Results 31 to 40 of about 9,175 (221)

Developing a Gaucher Disease Pharmacological Model of the Blood-Brain Barrier [PDF]

, 2021
Gaucher disease is a genetic disorder that leads to the lysosomal enzyme glucocerebrosidase (GCase) being unable to function correctly. The enzyme breaks down glucocerebroside (GluCer) and in the case of Gaucher disease, a buildup of GluCer leads to ...
Selvadoss, Andrew
core   +1 more source

Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report

Journal of Medical Case Reports, 2018
Background Gaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase.
Meng Yang
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

A Case of Adult Type 1 Gaucher Disease Complicated by Temporal Intestinal Hemorrhage

Case Reports in Gastroenterology, 2013
A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule.
Junitsu Ito, Takafumi Saito, Chikahiko Numakura, Akiko Iwaba, Shinpei Sugahara, Rika Ishii, Chikako Sato, Hiroaki Haga, Kazuo Okumoto, Yuko Nishise, Hisayoshi Watanabe, Hiroyuki Ida, Kiyoshi Hayasaka, Hitoshi Togashi, Sumio Kawata, Yoshiyuki Ueno   +15 more
doaj   +1 more source

Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously

Clinical Case Reports, 2018
Key Clinical Message Report a female diagnosed as type 1 Gaucher disease after a femoral pathologic fracture when she was 55 years old. Enzyme replacement therapy was started, and she achieved therapeutic goals.
MSoledad Noya, Marcio Andrade‐Campos, Pilar Irun, Laura López de Frutos, MFernanda López‐Fernandez, Pilar Giraldo   +5 more
doaj   +1 more source

Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease

American Journal of Hematology, EarlyView.
ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain, Noffar Bar, Lilu Guo, Katherine Klinger, Punita Gupta, Atta Ur Rahman, Ruhua Yang, Yanhong Deng, Natalia Neparidze, Shiny Nair, Pramod K. Mistry   +10 more
wiley   +1 more source

Non-immune Hemolysis in Gaucher Disease and Review of the Literature Eliyakim Hershkop, Idan Bergman, Alina Kurolap, Najib Dally, and Hagit Baris Feld

Rambam Maimonides Medical Journal, 2021
Gaucher disease (GD) is an autosomal recessive disease characterized by the buildup of glucocerebrosides in macrophages, resulting in the formation of “Gaucher cells.” These cells predominantly infiltrate the liver, spleen, and bone marrow leading to ...
Eliyakim Hershkop, Idan Bergman, Alina Kurolap, Najib Dally, Hagit Baris Feldman   +4 more
doaj   +1 more source

Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models [PDF]

, 2016
Gaucher disease is caused by inherited deficiency of lysosomal glucocere-brosidase. Proteome analysis of laser-dissected splenic Gaucher cells revealed increased amounts of glycoprotein nonmetastatic melanoma protein B (gpNMB).
Pavlova, E., Vissers, J.P., Ottenhoff, Roelof, Verhoek, M., Kallemeijn, Wouter, Kallemeijn, W.W., Nelson, J., Aerts, J.M.F.G., Aerts, Johannes M., Kramer, G., Verhoek, Marri, Gaspar, P., Eijk, M.C. van, Pavlova, Elena, Nelson, Jessica, Boot, Rolf G., Gabriel, T., Donker-Koopman, W., Kramer, Gertjan, Donker-Koopman, Wilma, Cox, T., Cox, Timothy, Boot, R.G., Gabriel, Tanit, Moran, Mary Teresa, van Eijk, Marco, Gaspar, Paulo, Ottenhoff, R., Laman, J.D., Wegdam, Wouter, Vissers, Johannes P. C., Wegdam, W., Moran, M.T., Laman, Jon D.   +33 more
core   +1 more source

Seeing beyond Gaucher disease: Early detection and treatment of ocular complications

Indian Journal of Ophthalmology, 2023
Background: Gaucher disease is a rare genetic disorder caused by a deficiency in the enzyme glucocerebrosidase, which impairs the body's ability to break down certain fats.
Padmaja K Rani, Dibya Prabha, Saumya Jakati, Rohan Nalawade   +3 more
doaj   +1 more source

Pseudo-Gaucher cells in myelodysplasia. [PDF]

Journal of Clinical Pathology, 1999
A case of myelodysplastic syndrome is reported, in which the bone marrow contained many cells with the typical light microscopic morphology of Gaucher cells. In the absence of any evidence of inherited Gaucher's disease, these cells are considered to be pseudo-Gaucher cells, which have been described previously in association with other haematological ...
A J, Stewart, R D, Jones
openaire   +2 more sources