Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Fabry Disease/drug therapy"'
1
Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week
Autor: Pieroni, Maurizio, Moon, James C, Arbustini, Eloisa, Barriales-Villa, Roberto, Camporeale, Antonia, Vujkovac, Andreja Cokan, Elliott, Perry M, Hagege, Albert, Kuusisto, Johanna, Linhart, Aleš, Nordbeck, Peter, Olivotto, Iacopo, Pietilä-Effati, Päivi, Namdar, Mehdi
Publikováno v: Journal of the American College of Cardiology, Vol. 77, No 7 (2021) pp. 922-936
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient α-galactosidase A activity that leads to an accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart. Cardiovascular involvemen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1400::96b823d33e8dd6c54c6259113d80f956
https://archive-ouverte.unige.ch/unige:159967
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2
The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells
Autor: Raphael Schiffmann, Zhang Yang, Yen-Hsi Chen, Morten Alder Schulz, Henrik Clausen, Julie Van Coillie, Yoshiki Narimatsu, Sergey Y. Vakhrushev, Zilu Ye, Shengjun Wang, Lingbo Sun, Eric P. Bennett, Weihua Tian, Ulla Mandel, Lars Hansen, Claus Kristensen, Siamak Jabbarzadeh-Tabrizi, Jin-Song Shen
Publikováno v: Tian, W, Ye, Z, Wang, S, Schulz, M A, Van Coillie, J, Sun, L, Chen, Y-H, Narimatsu, Y, Hansen, L, Kristensen, C, Mandel, U, Bennett, E P, Jabbarzadeh-Tabrizi, S, Schiffmann, R, Shen, J-S, Vakhrushev, S Y, Clausen, H & Yang, Z 2019, ' The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells ', Nature Communications, vol. 10, 1785 . https://doi.org/10.1038/s41467-019-09809-3
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Nature Communications
Lysosomal replacement enzymes are essential therapeutic options for rare congenital lysosomal enzyme deficiencies, but enzymes in clinical use are only partially effective due to short circulatory half-life and inefficient biodistribution. Replacemen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::242c3968a0c7e7f9e772eb17f03dd809
https://curis.ku.dk/portal/da/publications/the-glycosylation-design-space-for-recombinant-lysosomal-replacement-enzymes-produced-in-cho-cells(3e2a06f8-14f4-4325-8421-d29ab3624404).html
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3
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Autor: Fred Holdbrook, J. Charles Jennette, Jay A. Barth, Jeffrey P. Castelli, Robert B. Colvin, Kathleen Nicholls, Suma P. Shankar, Laura Barisoni, Daniel G. Bichet, Derralynn Hughes, Andrew E. Mulberg, Nina Skuban, Raphael Schiffmann, Ana Jovanovic, Ulla Feldt-Rasmussen, Roberto Giugliani
Publikováno v: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Schiffmann, R, Bichet, D G, Jovanovic, A, Hughes, D A, Giugliani, R, Feldt-Rasmussen, U, Shankar, S P, Barisoni, L, Colvin, R B, Jennette, J C, Holdbrook, F, Mulberg, A, Castelli, J P, Skuban, N, Barth, J A & Nicholls, K 2018, ' Migalastat improves diarrhea in patients with Fabry disease : clinical-biomarker correlations from the phase 3 FACETS trial ', Orphanet Journal of Rare Diseases, vol. 13, 68 . https://doi.org/10.1186/s13023-018-0813-7
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, vol 13, iss 1
BACKGROUND: Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations.METHODS: W
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6168ba730ec24305448d7728091af0
https://doi.org/10.1186/s13023-018-0813-7
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4
Fabry in the older patient: Clinical consequences and possibilities for treatment
Autor: Svetlana Bizjajeva, Olivier Lidove, Kathleen Nicholls, Eva Brand, Derralynn Hughes, Frédéric Barbey, Dau-Ming Niu
Publikováno v: Molecular genetics and metabolism, vol. 118, no. 4, pp. 319-325
Baseline demographic and phenotypic characteristics of patients aged ≥50years in the Fabry Outcome Survey (Shire; data extracted June 2014) were compared with younger adults to investigate potential factors influencing treatment decisions in later
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d5ba5e002616380e0582cbe797febf
https://serval.unil.ch/notice/serval:BIB_4031C9ABB616
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5
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations
Autor: Valentina Citro 1, Marco Cammisa 2, Ludovica Liguori 3, Chiara Cimmaruta 1, 3, Jan Lukas 4, Maria Vittoria Cubellis 1, Giuseppina Andreotti 3
Publikováno v: International journal of molecular sciences (Online) (2016). doi:10.3390/ijms17122010
info:cnr-pdr/source/autori:Valentina Citro 1, Marco Cammisa 2, Ludovica Liguori 3, Chiara Cimmaruta 1,3, Jan Lukas 4,*, Maria Vittoria Cubellis 1,* and Giuseppina Andreotti 3/titolo:The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations/doi:10.3390%2Fijms17122010/rivista:International journal of molecular sciences (Online)/anno:2016/pagina_da:/pagina_a:/intervallo_pagine:/volume
International Journal of Molecular Sciences, Vol 17, Iss 12, p 2010 (2016)
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 17; Issue 12; Pages: 2010
Fabry disease is caused by mutations in the GLA gene and is characterized by a large genotypic and phenotypic spectrum. Missense mutations pose a special problem for graduating diagnosis and choosing a cost-effective therapy. Some mutants retain enzy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::515e864c199e30ee004f56e526d0fb7f
https://publications.cnr.it/doc/361366
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6
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