Results 21 to 30 of about 28,810 (212)

Lung Involvement in Gaucher Disease

Case Reports in Clinical Practice, 2020
Introduction: Gaucher Disease is an autosomal recessive lysosomal storage disease. Pulmonary involvement in Gaucher Disease is rare and often seen in the severe form of the disease with the worst outcome.
Mahnaz Pejman Sani, Keivan Gohari Moghadam, Mahbube Ebrahimpur   +2 more
doaj   +1 more source

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   +1 more source

Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene [PDF]

, 2019
Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Amaral, Olga, Bragança, José, Duarte, Ana Joana, Moreira, Luciana, Ribeiro, Diogo, Santos, Renato   +5 more
core   +2 more sources

Gaucher disease type 1 first recognized in an elderly patient with thrombocytopenia and lung adenocarcinoma

Clinical Case Reports, 2019
Recognizing Gaucher disease in elderly patients can be challenging. We present a Gaucher disease type 1 case diagnosed in an elderly patient with thrombocytopenia and lung adenocarcinoma.
Wen Shuai, Celeste Estefania Wagner, Narittee Sukswai, L. Jeffrey Medeiros, Carlos Bueso‐Ramos, Thein Hlaing Oo   +5 more
doaj   +1 more source

Engineering of GlcNAc-1-phosphotransferase for production of highly phosphorylated lysosomal enzymes for enzyme replacement therapy [PDF]

, 2017
Several lysosomal enzymes currently used for enzyme replacement therapy in patients with lysosomal storage diseases contain very low levels of mannose 6-phosphate, limiting their uptake via mannose 6-phosphate receptors on the surface of the deficient ...
Doray, Balraj, Kornfeld, Stuart, Lee, Wang-Sik, Liu, Lin   +3 more
core   +3 more sources

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 [PDF]

, 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
A Zimran, AC Vedder, Ales Dudesek, Andrea Dardis, Anja Röhle, Anne-Katrin Giese, Ari Zimran, Arndt Rolfs, B Rosengren, C Auray-Blais, CE Hollak, CE Hollak, CE Metz, Daniel Mascher, Deborah Elstein, E Lloyd-Evans, E Schutyser, E Schutyser, ER Delong, GM Pastores, Hermann Mascher, I Kurt, I Maire, J Wittmann, Jan Lukas, JE Groener, JE Groener, JM Aerts, K Nakamura, KL Chang, L van Dussen, Matthias Wittstock, MH Zweig, N Dekker, O Nilsson, OA Bodamer, PJ Orchard, PJ Seeman, Rayk Hübner, RG Boot, RY Wang, S Atsumi, S Aviner, S Struyf, T Taketomi, Tobias Böttcher, U Finckh, Ulrike Grittner, Uta Gölnitz, Wolfgang Meyer, XY Mao, Y Sun   +51 more
core   +7 more sources

Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy

Molecular Genetics and Metabolism Reports, 2019
Advanced liver disease complicated by hepatopulmonary syndrome is a recognized complication of Gaucher disease. Macrophage-targeted, recombinant enzyme replacement therapy is effective in reversing clinical manifestations attributed to the accumulation ...
Amal El Beshlawy, Vagishwari Murugesan, Pramod Kumar Mistry, Khaled Eid   +3 more
doaj   +1 more source

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +1 more source

Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry. [PDF]

J Inherit Metab Dis
This graphical abstract highlight the real‐world maternal and fetal outcomes in imiglucerase‐treated patients with Gaucher disease from the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub‐Registry. ABSTRACT Untreated women with Gaucher disease (GD) are at an increased risk of GD‐related complications during pregnancy ...
Revel-Vilk S, Deegan P, Day-Salvatore D, Goker-Alpan O, Mengel E, Batista JL, Carwile JL, Perichon G, Ficicioglu C.   +8 more
europepmc   +2 more sources

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. [PDF]

, 2014
Gaucher disease is caused by mutations in the glucocerebrosidase gene, which encodes the lysosomal hydrolase glucosylceramidase. Patients with Gaucher disease and heterozygous glucocerebrosidase mutation carriers are at increased risk of developing ...
Abramov, AY, Chau, KY, Cooper, JM, Foltynie, T, Gegg, M, Hughes, D, Magalhaes, J, McNeill, A, Mehta, A, Schapira, AH, Shen, C   +10 more
core   +1 more source