Výsledky vyhledávání - "classic phenotype"

Akademický článek

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

Autor: Daniel G. Bichet, Roser Torra, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt-Rasmussen, Raphael Schiffmann, Kathy Nicholls

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100786- (2021)

The effect of migalastat on long-term renal outcomes in enzyme replacement therapy (ERT)–naive and ERT-experienced patients with Fabry disease is not well defined. An integrated posthoc analysis of the phase 3 clinical trials and open-label extensi

Externí odkaz: https://doaj.org/article/3840e284e7ef415e9f42f64e9adb467f

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Akademický článek

Autor: Bun Sheng, Ka Fai Yim, Lin Kiu Lau, Han Chih Hencher Lee, Ka Shun Samuel Fung, Ka Fai Johnny Ma, Wai Leung Chak

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100596- (2020)

Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the GLA gene that encodes α-galactosidase A. The p.N215S (c.644A > G [p.Asn215Ser]) genotype is the most common later-onset variant reported in individuals of Europe

Externí odkaz: https://doaj.org/article/76cc919d0afc4de8880b4d705b64d093

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Akademický článek

Disease Progression Modeling to Evaluate the Effects of Enzyme Replacement Therapy on Kidney Function in Adult Patients with the Classic Phenotype of Fabry Disease

Autor: Albina Nowak, Gilbert Koch, Uyen Huynh-Do, Martin Siegenthaler, Hans-Peter Marti, Marc Pfister

Publikováno v: Kidney & Blood Pressure Research, Vol 42, Iss 1, Pp 1-15 (2017)

Background/Aims: Fabry disease (FD) is a rare inherited lysosomal storage disease with common and serious kidney complications. Enzyme replacement therapies (ERT) with agalsidase-α and -β were investigated to characterize their therapeutic effect o

Externí odkaz: https://doaj.org/article/b8cd9f854ad947928b30c9f7fd23400d

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Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis

Autor: Alaa Hamed, Steve Kanters, Rachel Goldgrub, Manish Maski, Pronabesh DasMahapatra, Dieter Ayers, Jeroen P. Jansen, Eugene Poggio, Alberto Ortiz, Elvira Ponce, Robert J. Desnick, Mario Aguiar

Publikováno v: Clinical Kidney Journal

Background Fabry disease is a rare, X-linked genetic disorder that, if untreated in patients with the Classic phenotype, often progresses to end-stage kidney disease. This meta-analysis determined the effect of agalsidase beta on loss of estimated gl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8903349d2f003dd6607a081731bc7770
https://doi.org/10.1093/ckj/sfaa065

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Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up

Autor: Carnicer-Cáceres, Clara, Arranz-Amo, Jose Antonio, Cea-Arestin, Cristina, Camprodon-Gomez, Maria, Moreno-Martinez, David, Lucas-Del-Pozo, Sara, Moltó Abad, Marc, Tigri-Santiña, Ariadna, Agraz Pamplona, Irene, Rodriguez-Palomares, Jose F.., Hernández-Vara, Jorge, Armengol-Bellapart, Mar, del Toro, Mireia, Pintos-Morell, Guillem, Universitat Autònoma de Barcelona

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Journal of Clinical Medicine, Vol 10, Iss 1664, p 1664 (2021)
Scientia
Journal of Clinical Medicine

Biomarcadores; Fenotipo clásico; Enfermedad de Fabry Biomarkers; Classic phenotype; Fabry disease Biomarcadors; Fenotip clàssic; Malaltia de Fabry Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56cc8e6dfc4771c60554da5059dfb96c
https://pubmed.ncbi.nlm.nih.gov/33924567

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Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

Autor: Bichet, Daniel G., Torra Balcells, Roser, Wallace, Eric, Hughes, Derralynn A, Giugliani, Roberto, Skuban, Nina, Krusinska, Eva, Feldt-Rasmussen, Ulla, Schiffmann, Raphael, Nicholls, Kathy, Universitat Autònoma de Barcelona

Publikováno v: Mol Genet Metab Rep
Molecular Genetics and Metabolism Reports
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100786-(2021)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Bichet, D G, Torra, R, Wallace, E, Hughes, D, Giugliani, R, Skuban, N, Krusinska, E, Feldt-Rasmussen, U, Schiffmann, R & Nicholls, K 2021, ' Long-term follow-up of renal function in patients treated with migalastat for Fabry disease ', Molecular Genetics and Metabolism Reports, vol. 28, 100786 . https://doi.org/10.1016/j.ymgmr.2021.100786

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da0e92f74c4e093a93d4351465c646fa
https://ddd.uab.cat/record/248892

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p.G360R is a pathogenic GLA gene mutation responsible for a classic phenotype of Fabry disease

Autor: J Guedes, R Fernandes, Daniela Marisa Carvalho Silva, Olga Azevedo, Hipólito Nzwalo, Ilídio de Jesus, D Bento, J Bispo, Pedro Azevedo, Ana Cabrita, Teresa Mota, Andre Aparecido Ramos, Nuno Marques, Gabriel Miltenberger-Miltenyi

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case hi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d62385f6d5d114ed3c977cc0c931c8a

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Akademický článek

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Autor: Han Chih Hencher Lee, Lin Kiu Lau, Ka Fai Yim, Bun Sheng, Wai Leung Chak, Ka Shun Samuel Fung, Ka Fai Johnny Ma

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100596-(2020)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fe25994f2beab76686c74732be53680
https://doi.org/10.1016/j.ymgmr.2020.100596

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