Literatura académica sobre el tema "Gauchers disease"
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Artículos de revistas sobre el tema "Gauchers disease"
Mhatre, Dr Ketan, Dr S. Mahore, Dr K. Bothale y Dr A. Patrikar. "Gauchers Disease: A Case Report". IOSR Journal of Dental and Medical Sciences 16, n.º 03 (abril de 2017): 107–10. http://dx.doi.org/10.9790/0853-160303107110.
Texto completoKogoleva, Ljudmila V., Julija A. Bobrovskaja y Sergey V. Milash. "Еye manifestations of Gaucher’s disease". Russian Pediatric Ophthalmology 16, n.º 4 (15 de diciembre de 2021): 21–26. http://dx.doi.org/10.17816/rpoj87436.
Texto completoRao, Aparna R., Daiva Parakininkas, Mary Hintermeyer, Annette D. Segura y Tom B. Rice. "Bilateral lung transplant in Gauchers type-1 disease". Pediatric Transplantation 9, n.º 2 (abril de 2005): 239–43. http://dx.doi.org/10.1111/j.1399-3046.2005.00251.x.
Texto completoVinay, D. J. Vinay y Sitsabesan Chokkalingam. "Approach to Total Hip Arthroplasty in Gauchers Disease with Pre-Existing Spinopelvic Fusion". Journal of Orthopaedic Case Reports 12, n.º 02 (2022): 76–80. http://dx.doi.org/10.13107/jocr.2022.v12.i02.2674.
Texto completoToom, Sudhamshi y Elizabeth Sedlis Singer. "Abstract #830: Rare Case of Severe Hypercalcemia: Gauchers Disease". Endocrine Practice 22 (mayo de 2016): 176–77. http://dx.doi.org/10.1016/s1530-891x(20)45164-x.
Texto completoIto, Sawa y A. John Barrett. "Gauchers Disease—A Reappraisal of Hematopoietic Stem Cell Transplantation". Pediatric Hematology and Oncology 30, n.º 2 (30 de enero de 2013): 61–70. http://dx.doi.org/10.3109/08880018.2012.762076.
Texto completoCohen, Daniel, Dina Kogan, Amir Rubin, Ari Zimran y Ehud Lebel. "Longevity of total hip arthroplasty implants in patients with Gaucher disease". HIP International 30, n.º 2 (11 de septiembre de 2019): 147–51. http://dx.doi.org/10.1177/1120700019834919.
Texto completoSingh, Savitri. "BONE MARROW ASPIRATION STUDY AS A POINTER TO DIAGNOSIS OF GAUCHERS DISEASE." International Journal of Advanced Research 7, n.º 4 (30 de abril de 2019): 930–33. http://dx.doi.org/10.21474/ijar01/8908.
Texto completoKedlaya, Shraddha K., Lenin Sankar Palanisamy, Ravikumar Veeramani y M. Ramachandran. "An interesting case of neurocutaneous syndrome". International Journal of Research in Medical Sciences 11, n.º 9 (28 de agosto de 2023): 3434–36. http://dx.doi.org/10.18203/2320-6012.ijrms20232656.
Texto completoSymeonidis, Argiris, Derralynn Hughes, Linda Richfield y Atul Mehta. "Variation of Serum Lipid Profile during Enzyme Replacement Therapy, in Patients with Type 1 Gauchers Disease." Blood 108, n.º 11 (16 de noviembre de 2006): 3849. http://dx.doi.org/10.1182/blood.v108.11.3849.3849.
Texto completoTesis sobre el tema "Gauchers disease"
Shebani, Eyman. "Ultrastructural Studies of the Airway Epithelium in Airway Diseases". Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6632.
Texto completoMonlleó, Mas Ester. "Aminocyclitol and iminosugar derivatives related to Gauche disease". Doctoral thesis, Universitat de Barcelona, 2016. http://hdl.handle.net/10803/400871.
Texto completoLa malaltia de Gaucher és una de les malalties d’emmagatzematge lisosomal més freqüent. Una mutació al gen gba1 provoca un incorrecte plegament de l’enzim Glucocerebrosidasa (GCase) que impedeix el seu transport del reticle endoplasmàtic (ER) fins al lisosoma, on té lloc la hidròlisi de la glucosilceramida (GluCer). Això provoca una acumulació d’aquest substrat, originant els símptomes clínics. En aquesta tesi s’ha sintetitzat una petita col·lecció de compostos per tal estudiar la influència del pKa de diferents inhibidors en la seva potencial activitat chaperona, és a dir, estudiar la seva capacitat de unir-se a la GCase mal plegada del reticle per facilitar-ne el correcte plegament i permetre el seu transport cap a lisosoma. Per aquest motiu, es buscaven compostos que presentessin una alta afinitat per la GCase en les condicions neutres del reticle endoplasmàtic, però que tinguessin baixa afinitat per aquest enzim a pHs lleugerament àcids com el del lisosoma (pH 5.2), per tal que no bloquegés l’activitat hidrolasa d’aquest enzim al lisosoma. Desprès d’analitzar els compostos amb diferents assajos, es va posar de manifest la importància de les condicions d’assaig a l’hora d’estudiar la inhibició d’un enzim, ja que diferents assajos poden conduir a conclusions diferents. Malgrat que no es va poder establir cap correlació directa entre el pKa dels inhibidors i la diferència d’activitat segons el pH de l’assaig, es va descobrir un dels derivats de DNJ amb millor potència inhibitòria de imiglucerasa (Gcase recombinant) descrit fins el moment. Per altra banda, es va analitzar la capacitat d’inhibició de GCS dels compostos sintetitzats, descobrint-se alguns inhibidors d’aquest enzim més potents que la NB-DNJ, compost que s’utilitza actualment com a inhibidor de GCS per al tractament de la malaltia de Gaucher, i possible comportament dual (inhibidors de GCS i chaperones per GCase).
Thomas, A. S. B. "Vascular events in Fabry and Gaucher disease". Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1433363/.
Texto completoMassaro, Giulia. "Intravenously administered gene therapy for neuronopathic Gaucher disease". Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10042055/.
Texto completoAitchison, K. L. "Lentiviral vectors for gene therapy of Gaucher disease". Thesis, University College London (University of London), 2015. http://discovery.ucl.ac.uk/1465062/.
Texto completoWillemsen, Robert. "Gaucher disease an immunoelectron microscopic and biochemical study /". [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 1995. http://hdl.handle.net/1765/13738.
Texto completoDavies, E. H. "Developing markers of neurological manifestations in Neuronopathic Gaucher Disease". Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1310245/.
Texto completoWei, Chao. "Molecular analysis and expression of the human glucocerebrosidase gene". Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/nq36653.pdf.
Texto completoSmith, Nicholas James Chapman. "Neuronopathic Gaucher disease : the pathobiological effects of glucosylsphingosine upon cellular actin within the central nervous system". Thesis, University of Cambridge, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648776.
Texto completoMADEO, ANNALISA. "Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease". Doctoral thesis, Università degli studi di Genova, 2021. http://hdl.handle.net/11567/1046904.
Texto completoBACKGROUND: Gaucher disease (GD) is a rare disorder characterized by defective function of b-glucocerebrosidase, which leads to progressive accumulation of its substrate in various organs, particularly the mononuclear phagocyte system. Hepatosplenomegaly and cytopenia represent the disease’s most common features, but patients with GD also show hyperinflammation, hypergammaglobulinemia, and immune dysregulation involving B, T, and natural killer cells. As clinical phenotype can be underhand, symptoms can overlap with autoimmune lymphoproliferative syndrome (ALPS) or other ALPS-like disorders. OBJECTIVE: To evaluate the ALPS-like immunological pattern and apoptosis function in patients with GD. METHODS: We evaluated lymphocyte subsets and immunophenotypic and serological features of ALPS (double negative T cells [DNTs], B220DDNTs, CD27D, T-reg/HLADR ratio, IL-10, IL-18, vitamin B12) in a population of patients with GD. Moreover, we tested FAS/TRAIL-induced apoptosis and CASP8/CASP10/PARP function in patients showing an immune-dysregulation pattern. RESULTS: A total of 41 patients (33 treated, 8 treatment-naïve) were studied. Nine (21%) and 7 (17%) of 41 patients had high DNT and B220DDNT counts, respectively. Overall, 10 of 41(24%) patients showed immunological features suggestive of ALPS that were more frequent in treatment-naïve subjects (P [ .040 vs P [ .031) and in those with early onset of the disease (P [ .046 vs P [ .011), respectively. FAS-induced apoptosis and caspase activation were further evaluated in these 10 patients and were found to be defective in 7 of them. CONCLUSIONS: We show that patients with GD may have ALPS-like features and FAS-mediated apoptosis defects that are more pronounced in treatment-naïve subjects and in patients with early onset of the disease. Therefore, diagnostic workup of patients with an ALPS-like phenotype should include screening for GD.
Libros sobre el tema "Gauchers disease"
Wendy, Schubert y National Institutes of Health (U.S.). Clinical Center, eds. Understanding Gaucher disease. [Bethesda, Md.?]: Clinical Center, U.S. Department of Health and Human Services, Public Health Service, National Institutes of Health, 1990.
Buscar texto completoNational Institutes of Health (U.S.). Office of Clinical Center Communications, ed. Understanding Gaucher disease. [Bethesda, Md.?]: Clinical Center Communications, National Institutes of Health, 1988.
Buscar texto completoKari, Carol. Understanding Gaucher disease. [Bethesda, Md.?]: Clinical Center, U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, 1990.
Buscar texto completoGrabowski, Gregory A. Gaucher Disease: Basic and Clinical Perspectives. Unitec House, 2 Albert Place, London N3 1QB, UK: Future Medicine Ltd, 2013. http://dx.doi.org/10.2217/9781780842011.
Texto completoKari, Carol. Gaucher's disease: A nurse's handbook : Clinical Center. [Bethesda, Md.?]: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, Office of Clinical Reports and Inquiries, Clinical Center, 1986.
Buscar texto completoNational Institutes of Health (U.S.). Office of Clinical Reports and Inquiries, ed. Gaucher's disease: A nurse's handbook : Clinical Center. Bethesda, Md.?]: U.S. Department of Health and Human Services, Public Health Service, National Institutes of Health, Office of Clinical Reports and Inquiries, Clinical Center, 1986.
Buscar texto completoM, Garber Alan y United States. Congress. Office of Technology Assessment., eds. Federal and private roles in the development and provision of alglucerase therapy for Gaucher disease. Washington, DC: Office of Technology Assessment, 1992.
Buscar texto completoA, Grabowski Gregory y Gardiner-Caldwell SynerMed, eds. A clinician's guide to Gaucher disease: A treatment algorithm. Califon, N.J: Gardiner-Caldwell SynerMed, 1994.
Buscar texto completoKaren, Bellenir, ed. Genetic disorders sourcebook: Basic information about heritable diseases and disorders such as Down syndrome, PKU, hemophilia, Von Willebrand disease, Gaucher disease, Tay-Sachs disease, and sickle cell disease ... Detroit, MI: Omnigraphics, 1996.
Buscar texto completoBryant, Jackie. Ceredase in the treatment of Type 1 Gaucher's disease. Bristol: R&D Directorate, NHS Executive South and West, 1996.
Buscar texto completoCapítulos de libros sobre el tema "Gauchers disease"
Pavelka, Margit y Jürgen Roth. "Gaucher’s disease". En Functional Ultrastructure, 112–13. Vienna: Springer Vienna, 2010. http://dx.doi.org/10.1007/978-3-211-99390-3_58.
Texto completoGilbert, Patricia. "Gaucher disease". En The A-Z Reference Book of Syndromes and Inherited Disorders, 131–33. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_34.
Texto completoKlein, Michael J. "Gaucher Disease". En Tumors and Tumor-Like Lesions of Bone, 895–904. London: Springer London, 2015. http://dx.doi.org/10.1007/978-1-4471-6578-1_67.
Texto completoEdmunds, Tim. "Gaucher Disease". En Protein Misfolding Diseases, 469–85. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470572702.ch21.
Texto completoElstein, Deborah y Ari Zimran. "Gaucher Disease". En Lysosomal Storage Disorders, 47–57. Oxford: John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781118514672.ch6.
Texto completoHollak, C. E. M. "Gaucher Disease". En Compendium of Inflammatory Diseases, 501–8. Basel: Springer Basel, 2016. http://dx.doi.org/10.1007/978-3-7643-8550-7_88.
Texto completoChen, Harold. "Gaucher Disease". En Atlas of Genetic Diagnosis and Counseling, 1–13. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_103-2.
Texto completoKlein, Michael J. "Gaucher Disease". En Tumors and Tumor-Like Lesions of Bone, 871–78. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-28315-5_70.
Texto completoHollak, C. E. M. "Gaucher Disease". En Encyclopedia of Inflammatory Diseases, 1–8. Basel: Springer Basel, 2015. http://dx.doi.org/10.1007/978-3-0348-0620-6_88-2.
Texto completoGrabowski, Gregory A. "Gaucher Disease". En Advances in Human Genetics 21, 377–441. Boston, MA: Springer US, 1993. http://dx.doi.org/10.1007/978-1-4615-3010-7_5.
Texto completoActas de conferencias sobre el tema "Gauchers disease"
Petrova, Iu A., G. G. Orlova, N. V. Bodareva, V. V. Rudakov y A. A. Gorbovskaia. "Gaucher disease". En ТЕНДЕНЦИИ РАЗВИТИЯ НАУКИ И ОБРАЗОВАНИЯ. НИЦ «Л-Журнал», 2018. http://dx.doi.org/10.18411/lj-09-2018-72.
Texto completoBahri, ME, S. Othmani, F. Msaddek, B. Louzir y MO Bahri. "THU0162 Bone involvement in gaucher disease". En Annual European Congress of Rheumatology, Annals of the rheumatic diseases ARD July 2001. BMJ Publishing Group Ltd and European League Against Rheumatism, 2001. http://dx.doi.org/10.1136/annrheumdis-2001.1064.
Texto completoSanthanakumaran, V., M. Pechan, V. Knauer, G. Merkel, J. Böhringer, K. Harzer, L. Laugwitz, S. Beck-Wödl, I. Krägeloh-Mann y S. Groeschel. "Challenges in Biochemical Diagnosis of Krabbe and Gaucher Disease". En Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739622.
Texto completoPhelix, Clyde F., Allen K. Bourdon, Greg Villareal y Richard G. LeBaron. "Modeling non-clinical and clinical drug tests in Gaucher disease". En 2016 38th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC). IEEE, 2016. http://dx.doi.org/10.1109/embc.2016.7590978.
Texto completoGonzález Rosa, V., MI Sierra Torres, S. Fernández Espínola, M. Zaragoza Rascón y M. Pajares Alonso. "5PSQ-006 Use of substitute enzymatic treatment and substrate reduction in gaucher disease". En 24th EAHP Congress, 27th–29th March 2019, Barcelona, Spain. British Medical Journal Publishing Group, 2019. http://dx.doi.org/10.1136/ejhpharm-2019-eahpconf.439.
Texto completoBucerzan, Simona, Camelia AlKhzouz, Ioana Nascu, Anca Zimmerman, Radu Popp, Cecilia Lazea y Paula Grigorescu-Sido. "OC-87 Gaucher disease in romania – baseline characteristics, specific diagnosis. treatment and outcome". En 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.87.
Texto completoAttjioui, H., A. Cheikh, Z. Aliat, M. Lazrak, I. Bennani, H. Mefetah y M. Bouatia. "4CPS-185 The effectiveness of enzyme replacement therapy in the management of gaucher disease". En 24th EAHP Congress, 27th–29th March 2019, Barcelona, Spain. British Medical Journal Publishing Group, 2019. http://dx.doi.org/10.1136/ejhpharm-2019-eahpconf.334.
Texto completoAttjioui, H., C. Adade, Z. Aliat, A. Cheikh, H. Mefetah y M. Bouatia. "4CPS-203 Pharmacoeconomic analysis of the management of gaucher disease in a paediatrics hospital". En 24th EAHP Congress, 27th–29th March 2019, Barcelona, Spain. British Medical Journal Publishing Group, 2019. http://dx.doi.org/10.1136/ejhpharm-2019-eahpconf.352.
Texto completoSchöler, D., E. Mengel, AE Canbay, M. Henning, M. Merkel, V. Keitel-Anselmino, B. Förner et al. "Increased incidence of HCC in Gaucher disease: A multicentric long-term analysis from 4 German centers". En 37. Jahrestagung der Deutschen Arbeitsgemeinschaft zum Studium der Leber. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0040-1722024.
Texto completoGoobie, G. C., S. M. Sirrs, J. Yee, J. C. English, C. Bergeron, R. G. Nador, J. R. Swiston, P. K. Mistry, W. Paquin y R. D. Levy. "Lung Transplantation in a Patient with Gaucher Disease Type 1: A Case Report and Review of the Literature". En American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a6253.
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