Works about GAUCHER'S disease

Results: 1003

Gaucher disease in Mexico. Epidemiologic overview.

Published in:

Acta Pediatrica de Mexico, 2011, v. 32, n. 5, p. 277

By:

Carbajal-Rodriguez, Luis;
Voirol-Garcia, Aitana;
Mora-Magaña, Ignacio;
Rodriguez-Herrera, Raymundo;
Zarco-Roman, Jorge

Publication type:

Article

La relación genotipo y fenotipo de la enfermedad de Gaucher en pacientes mexicanos. Estudio comparativo.

Published in:

Acta Pediatrica de Mexico, 2011, v. 32, n. 1, p. 38

By:

Carbajal-Rodríguez, Luis;
Voirol-García, Aitana;
Mora-Magaña, Ignacio

Publication type:

Article

Fístula arteriovenosa pulmonar en la enfermedad de Gaucher tipo I: informe de un caso y revisión de la literatura.

Published in:

Acta Pediatrica de Mexico, 2009, v. 30, n. 3, p. 137

By:

Bonilla-Merino, Alejandra;
Ordoñez-Gutierrez, Eduardo Augusto;
Gómez-Guillermoprieto, Leopoldo;
Villatoro-Fernández, Jorge;
Jiménez-Urueta, Pedro Salvador

Publication type:

Article

Rheumatologic aspects of lysosomal storage diseases.

Published in:

Clinical Rheumatology, 2007, v. 26, n. 3, p. 335, doi. 10.1007/s10067-006-0299-x

By:

Manger, Bernhard;
Mengel, Eugen;
Schaefer, Roland

Publication type:

Article

Apparent diffusion coefficient vale of the brain in patients with Gaucher’s disease type II and type III.

Published in:

Neuroradiology, 2009, v. 51, n. 11, p. 773, doi. 10.1007/s00234-009-0548-1

By:

Razek, Ahmed Abdel Khalek Abdel;
El-Gaber, Nahed Abd;
Abdalla, Ahmed;
Fathy, Abeer;
Azab, Ahmed;
Rahman, Ashraf Abdel

Publication type:

Article

Cauda equina syndrome due to an intra-dural sacral cyst in type-1 Gaucher disease.

Published in:

European Spine Journal, 2004, v. 13, n. 3, p. 249, doi. 10.1007/s00586-003-0657-1

By:

Hamlat, Abderrahmane;
Saikali, Stephan;
Lakehal, Mohamed;
Pommereuil, Michéle;
Morandi, Xavier

Publication type:

Article

Severe pathologic compression of three consecutive vertebrae in Gaucher's disease: a case report and review of the literature.

Published in:

European Spine Journal, 2003, v. 12, n. 1, p. 97, doi. 10.1007/s00586-002-0399-5

By:

Wiesner, L.;
Niggemeyer, O.;
Kothe, R.;
Meiss, A. L.

Publication type:

Article

Bone marrow involvement in Gaucher disease at MRI : what long-term evolution can we expect under enzyme replacement therapy?

Published in:

European Radiology, 2015, v. 25, n. 10, p. 2969, doi. 10.1007/s00330-015-3715-2

By:

Fedida, Benjamin;
Touraine, Sébastien;
Stirnemann, Jerôme;
Belmatoug, Nadia;
Laredo, Jean-Denis;
Petrover, David

Publication type:

Article

Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease.

Published in:

European Radiology, 2013, v. 23, n. 11, p. 3005, doi. 10.1007/s00330-013-2924-9

By:

Razek, Ahmed;
Abdalla, Ahmed;
Gaber, Nahed;
Fathy, Abeer;
Megahed, Ahmed;
Barakat, Tarek;
Alsayed, Mona

Publication type:

Article

Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.

Published in:

Glycobiology, 2021, v. 31, n. 11, p. 1416, doi. 10.1093/glycob/cwab046

By:

Reza, Safoura;
Ugorski, Maciej;
Suchański, Jarosław

Publication type:

Article

Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants.

Published in:

Glycobiology, 2012, v. 22, n. 4, p. 492, doi. 10.1093/glycob/cwr157

By:

He, Xu;
Galpin, Jason D;
Tropak, Michael B;
Mahuran, Don;
Haselhorst, Thomas;
von Itzstein, Mark;
Kolarich, Daniel;
Packer, Nicolle H;
Miao, Yansong;
Jiang, Liwen;
Grabowski, Gregory A;
Clarke, Lorne A;
Kermode, Allison R

Publication type:

Article

Characterization of gene-activated human acid-β-glucosidase: Crystal structure, glycan composition, and internalization into macrophages.

Published in:

Glycobiology, 2010, v. 20, n. 1, p. 24, doi. 10.1093/glycob/cwp138

By:

Brumshtein, Boris;
Salinas, Paul;
Peterson, Brian;
Chan, Victor;
Silman, Israel;
Sussman, Joel L.;
Savickas, Philip J.;
Robinson, Gregory S.;
Futerman, Anthony H.

Publication type:

Article

OD REDAKCJI.

Published in:

Polski Przegląd Neurologiczny, 2024, v. 20, n. 3, p. V

By:

Naczelny, Redaktor;
Redakcji, Sekretarz

Publication type:

Article

Home Enzyme Replacement Therapy in Gaucher Disease: A Review.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 3, p. 842, doi. 10.3390/jcm14030842

By:

Kieć-Wilk, Beata;
Guijt, Paul;
Dan, Michaela;
Abdelwahab, Magy;
Revel-Vilk, Shoshana;
Serratrice, Christine

Publication type:

Article

Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 12, p. 3588, doi. 10.3390/jcm13123588

By:

Elstein, Deborah;
Belmatoug, Nadia;
Bembi, Bruno;
Deegan, Patrick;
Fernandez-Sasso, Diego;
Giraldo, Pilar;
Göker-Alpan, Özlem;
Hughes, Derralynn;
Lau, Heather;
Lukina, Elena;
Revel-Vilk, Shoshana;
Schwartz, Ida Vanessa D.;
Istaiti, Majdolen;
Botha, Jaco;
Gadir, Noga;
Schenk, Jörn;
Zimran, Ari

Publication type:

Article

A Feasibility Open-Labeled Clinical Trial Using a Second-Generation Artificial-Intelligence-Based Therapeutic Regimen in Patients with Gaucher Disease Treated with Enzyme Replacement Therapy.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 11, p. 3325, doi. 10.3390/jcm13113325

By:

Hurvitz, Noa;
Dinur, Tama;
Revel-Vilk, Shoshana;
Agus, Samuel;
Berg, Marc;
Zimran, Ari;
Ilan, Yaron

Publication type:

Article

A Real-World Investigation of MRI Changes in Bone in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: The EIROS Study.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 10, p. 2926, doi. 10.3390/jcm13102926

By:

Bengherbia, Monia;
Berger, Marc;
Hivert, Bénédicte;
Rigaudier, Florian;
Bracoud, Luc;
Vaeterlein, Ole;
Yousfi, Karima;
Maric, Michele;
Malcles, Marie;
Belmatoug, Nadia

Publication type:

Article

Long-Term Treatment of Gaucher Disease with Velaglucerase Alfa in ERT-Naïve Patients from the Gaucher Outcome Survey (GOS) Registry.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 10, p. 2782, doi. 10.3390/jcm13102782

By:

Deegan, Patrick;
Lau, Heather;
Elstein, Deborah;
Fernandez-Sasso, Diego;
Giraldo, Pilar;
Hughes, Derralynn;
Zimran, Ari;
Istaiti, Majdolen;
Gadir, Noga;
Botha, Jaco;
Revel-Vilk, Shoshana

Publication type:

Article

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1487, doi. 10.3390/jcm13051487

By:

Giacomarra, Miriam;
Colomba, Paolo;
Francofonte, Daniele;
Zora, Marcomaria;
Caocci, Giovanni;
Diomede, Daniela;
Giuffrida, Gaetano;
Fiori, Laura;
Montanari, Chiara;
Sapuppo, Annamaria;
Scortechini, Anna Rita;
Vitturi, Nicola;
Duro, Giovanni;
Zizzo, Carmela

Publication type:

Article

Cancer Risk in Patients with Gaucher Disease Using Real-World Data.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 24, p. 7707, doi. 10.3390/jcm12247707

By:

Revel-Vilk, Shoshana;
Zimran, Ari;
Istaiti, Majdolen;
Azani, Liat;
Shalev, Varda;
Chodick, Gabriel;
Manor, Orly;
Paltiel, Ora

Publication type:

Article

Real-World Experiences with Taliglucerase Alfa Home Infusions for Patients with Gaucher Disease: A Global Cohort Study.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 18, p. 5913, doi. 10.3390/jcm12185913

By:

Revel-Vilk, Shoshana;
Mansfield, Royston;
Feder-Krengel, Neta;
Machtiger-Azoulay, Noya;
Kuter, David;
Szer, Jeff;
Rosenbaum, Hanna;
Ferreira, David Cavalcanti;
Ruhrman-Shahar, Noa;
Wajnrajch, Michael;
Zimran, Ari

Publication type:

Article

The Complexities of Diagnosis with Co-Existing Gaucher Disease and Hemato-Oncology—A Case Report and Review of the Literature.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 17, p. 5518, doi. 10.3390/jcm12175518

By:

Sudul, Paulina;
Piatkowska-Jakubas, Beata;
Pawlinski, Lukasz;
Galazka, Krystyna;
Sacha, Tomasz;
Kiec-Wilk, Beata

Publication type:

Article

A Deep-Learning Approach to Spleen Volume Estimation in Patients with Gaucher Disease.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 16, p. 5361, doi. 10.3390/jcm12165361

By:

Azuri, Ido;
Wattad, Ameer;
Peri-Hanania, Keren;
Kashti, Tamar;
Rosen, Ronnie;
Caspi, Yaron;
Istaiti, Majdolen;
Wattad, Makram;
Applbaum, Yaakov;
Zimran, Ari;
Revel-Vilk, Shoshana;
C. Eldar, Yonina

Publication type:

Article

Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on "Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11 , 5158"

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 4017, doi. 10.3390/jcm12124017

By:

Hughes, Derralynn A.;
Deegan, Patrick;
Giraldo, Pilar;
Göker-Alpan, Özlem;
Lau, Heather;
Lukina, Elena;
Revel-Vilk, Shoshana;
Scarpa, Maurizio;
Botha, Jaco;
Gadir, Noga;
Zimran, Ari

Publication type:

Article

The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11 , 5158

Published in:

2023

By:

Mistry, Pramod K.;
Kishnani, Priya S.;
Balwani, Manisha;
Charrow, Joel M.;
Hull, Judy;
Weinreb, Neal J.;
Cox, Timothy M.

Publication type:

Letter

The Bone Biomarker of Quantitative Chemical Shift Imaging in Patients with Type 1 Gaucher Disease Receiving Low-Dose Long-Term Enzyme Replacement Therapy.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 6, p. 2220, doi. 10.3390/jcm12062220

By:

Zimran, Ari;
Szer, Jeff;
Becker-Cohen, Michal;
Jens, Sjoerd;
Cozma, Claudia;
Revel-Vilk, Shoshana

Publication type:

Article

Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 1, p. 85, doi. 10.3390/jcm12010085

By:

Castillon, Genaro;
Chang, Shun-Chiao;
Moride, Yola

Publication type:

Article

Hemostatic Abnormalities in Gaucher Disease: Mechanisms and Clinical Implications.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 23, p. 6920, doi. 10.3390/jcm11236920

By:

Linari, Silvia;
Castaman, Giancarlo

Publication type:

Article

Real-Life Experience with Oral Eliglustat in Patients with Gaucher Disease Previously Treated with Enzyme Replacement Therapy.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 21, p. 6265, doi. 10.3390/jcm11216265

By:

Istaiti, Majdolen;
Becker-Cohen, Michal;
Dinur, Tama;
Revel-Vilk, Shoshana;
Zimran, Ari

Publication type:

Article

Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS).

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 17, p. 5158, doi. 10.3390/jcm11175158

By:

Hughes, Derralynn A.;
Deegan, Patrick;
Giraldo, Pilar;
Göker-Alpan, Özlem;
Lau, Heather;
Lukina, Elena;
Revel-Vilk, Shoshana;
Scarpa, Maurizio;
Botha, Jaco;
Gadir, Noga;
Zimran, Ari

Publication type:

Article

Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4890, doi. 10.3390/jcm10214890

By:

Jezela-Stanek, Aleksandra;
Kleinotiene, Grazina;
Chwialkowska, Karolina;
Tylki-Szymańska, Anna

Publication type:

Article

TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2217, doi. 10.3390/jcm10102217

By:

Ivanova, Margarita;
Dao, Julia;
Noll, Lauren;
Fikry, Jacqueline;
Goker-Alpan, Ozlem;
Resch, Heinrich

Publication type:

Article

Serum Chitotriosidase, a Putative Marker of Chronically Activated Macrophages, Increases With Normal Aging.

Published in:

Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2013, v. 68, n. 10, p. 1303, doi. 10.1093/gerona/glt022

By:

Ramanathan, Rohit;
Kohli, Anita;
Ingaramo, María Clara;
Jain, Alka;
Leng, Sean X.;
Punjabi, Naresh M.;
Walston, Jeremy D.;
Fedarko, Neal S.

Publication type:

Article

The Evaluation of Skeletal Manifestations in Patients with Gaucher Disease.

Published in:

Journal of Pediatric Research, 2021, v. 8, n. 3, p. 257, doi. 10.4274/jpr.galenos.2020.13334

By:

Kasapkara, Çiğdem Seher;
Olgaç, Asburçe;
Okur, İlyas;
Ezgu, Fatih Süheyl;
Tümer, Leyla

Publication type:

Article

Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.

Published in:

Diseases, 2025, v. 13, n. 4, p. 102, doi. 10.3390/diseases13040102

By:

Morado Arias, Marta;
Villarrubia Espinosa, Jesús;
Vitoria Miñana, Isidro;
Calderón Sandubete, Enrique;
Quintero, Víctor;
Torralba-Cabeza, Miguel Ángel

Publication type:

Article

Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center.

Published in:

eLife, 2023, p. 1, doi. 10.7554/eLife.87537

By:

Basiri, Mohsen;
Ghaffari, Mohammad E.;
Jiapeng Ruan;
Murugesan, Vagishwari;
Kleytman, Nathaniel;
Belinsky, Glenn;
Akhavan, Amir;
Lischuk, Andrew;
Lilu Guo;
Klinger, Katherine;
Mistry, Pramod K.

Publication type:

Article

Phase 1 Healthy Volunteer Study of AL01211, an Oral, Non‐brain Penetrant Glucosylceramide Synthase Inhibitor, to Treat Fabry Disease and Type 1 Gaucher Disease.

Published in:

Clinical Pharmacology in Drug Development, 2024, v. 13, n. 6, p. 696, doi. 10.1002/cpdd.1375

By:

Babcock, Michael;
Zheng, Jianhong;
Gail Shurr, Jessica;
Li, Li;
Wang, Bing;
Huertas, Pedro;
Ryan, Philip John;
Shen, Yuqiao;
Garovoy, Marvin

Publication type:

Article

A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep.

Published in:

Animal Genetics, 2017, v. 48, n. 6, p. 733, doi. 10.1111/age.12613

By:

Zhou, Huitong;
Zhang, Yunsheng;
Suter, Robert;
Gong, Hua;
Fang, Qian;
Zhou, Ping;
Hickford, Jon G. H.

Publication type:

Article

Gaucher disease in Brazil: a comprehensive 16 year retrospective study on survival, cost, and treatment insights.

Published in:

Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1433970

By:

Borin, Marcus Carvalho;
Alvares-Teodoro, Juliana;
Acurcio, Francisco Assis;
Guerra Jr, Augusto Afonso

Publication type:

Article

Gaucher disease in Brazil: a comprehensive 16 year retrospective study on survival, cost, and treatment insights.

Published in:

Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1433970

By:

Carvalho Borin, Marcus;
Alvares-Teodoro, Juliana;
Assis Acurcio, Francisco;
Afonso Guerra Jr., Augusto

Publication type:

Article

Concurrent juvenile myelomonocytic leukemia with thalassemia in a case with Plasmodium knowlesi infection from Sabah, Malaysian Borneo.

Published in:

Hematology Reports, 2019, v. 11, n. 3, p. 46, doi. 10.4081/hr.2019.8167

By:

Abdullah, Mimi Azreen;
Abdullah, Saleh Mohammed;
Kumar, Subbiah Vijay;
Hoque, Mohammad Zahirul

Publication type:

Article

Type 1 Gaucher's Disease. A Rare Genetic Lipid Metabolic Disorder Whose Diagnosis Was Concealed by Recurrent Malaria Infections in a 12-Year-Old Girl.

Published in:

2024

By:

Mitala, Yekosani;
Birungi, Abraham;
Mushabe, Branchard;
Manzi, John;
Ssenkumba, Brian;
Atwine, Raymond;
Ankunda, Siyadora

Publication type:

Case Study

Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease.

Published in:

Journal of Blood Medicine, 2021, v. 12, p. 1045, doi. 10.2147/JBM.S279756

By:

Giraldo, Pilar;
Andrade-Campos, Marcio

Publication type:

Article

Molecular basis and clinical management of Gaucher disease.

Published in:

Cardiogenetics, 2013, v. 3, n. 1s, p. 24, doi. 10.4081/cardiogenetics.2013.s1.e4

By:

Di Rocco, Maja;
Loggini, Andrea;
Russo, Pierluigi

Publication type:

Article

Mandibular and dental manifestations of Gaucher disease.

Published in:

Oral Diseases, 2012, v. 18, n. 5, p. 421, doi. 10.1111/j.1601-0825.2011.01898.x

By:

Saranjam, HR;
Sidransky, E;
Levine, WZ;
Zimran, A;
Elstein, D

Publication type:

Article

Use of Identical INN "Imiglucerase" for Different Drug Products: Impact Analysis of Adverse Events in a Proprietary Global Safety Database.

Published in:

Drug Safety, 2022, v. 45, n. 2, p. 127, doi. 10.1007/s40264-021-01125-4

By:

Tsang, So-Fai;
Pandya, Shirali;
Barakov, Kristina;
Keutzer, Joan;
Lewis, Grace;
Ross, Leorah;
Freisens, Selena

Publication type:

Article

Cryo-TEM structure of β-glucocerebrosidase in complex with its transporter LIMP-2.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-58340-1

By:

Dobert, Jan Philipp;
Schäfer, Jan-Hannes;
Dal Maso, Thomas;
Ravindran, Priyadarshini;
Huard, Dustin J. E.;
Socher, Eileen;
Schildmeyer, Lisa A.;
Lieberman, Raquel L.;
Versées, Wim;
Moeller, Arne;
Zunke, Friederike;
Arnold, Philipp

Publication type:

Article

Screening for Gaucher's disease in unexplained spleenomegaly and/or thrombocytopenia: An observational study.

Published in:

Journal of Medical & Allied Sciences, 2021, v. 11, n. 2, p. 120, doi. 10.5455/jmas.2070

By:

Tak, Himangi;
Gupta, Ashok;
Tak, Himani;
Agarwal, Kamlesh

Publication type:

Article

Exploring the Genotype–Phenotype Correlation in GBA -Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.694764

By:

Menozzi, Elisa;
Schapira, Anthony H. V.

Publication type:

Article

Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.679927

By:

Vieira, Sophia R. L.;
Morris, Huw R.

Publication type:

Article