Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Lyso gb3"'
Autor:
Massimiliano Veroux, Ines P. Monte, Margherita S. Rodolico, Daniela Corona, Rita Bella, Antonio Basile, Stefano Palmucci, Maria L. Pistorio, Giuseppe Lanza, Concetta De Pasquale, Pierfrancesco Veroux, on behalf of “Multidisciplinary Research Center for the diagnosis and treatment of Fabry Disease and for Organ Transplantation
Publikováno v:
Biomedicines, Vol 8, Iss 10, p 396 (2020)
Fabry disease (FD) is a rare cause of end-stage renal disease requiring kidney transplantation. Data on the incidence of unrecognized FD in kidney transplant recipients are scarce and probably underestimated. This study evaluated the incidence of FD
Externí odkaz:
https://doaj.org/article/90a6c6690e344d098aa14d213c4cd300
Autor:
Jose D Santotoribio, Salvador García-Morillo, Hernández-Arévalo Paula, Hada C. Macher, Juan M. Guerrero, Pilar Jiménez-Arriscado, Antonio González-Meneses, Rocío Delarosa-Rodríguez
Publikováno v:
Clinical Genetics. 99:761-771
The purpose of this study was to examine the applicability of the use of samples in dried blood spot (DBS) for the definitive diagnosis of Fabry disease (FD) in males and females and to compare the diagnostic role of α-galactosidase A activity (α-G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a41f26898806aa75f0f2dbd852374b1d
https://doi.org/10.1111/cge.13936
https://doi.org/10.1111/cge.13936
Autor:
Senta Graf, Constantin Gatterer, Martina Gaggl, Gere Sunder-Plassmann, Gerald Mundigler, Paulus S. Rommer
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM). 58:e275-e278
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7846d95764aa26f3e47df79fdfb2614c
https://doi.org/10.1515/cclm-2020-0588
https://doi.org/10.1515/cclm-2020-0588
Autor:
Hiroki Maruyama, Satoshi Ishii, Masaru Shimura, Takeshi Inoue, Mariko Mikame, Gaku Matsukura, Tsuyoshi Shiga, Kenichiro Hanawa, Ryushi Tazawa, Atsumi Taguchi, Mimiko Matsumura, Mio Ebato, Jun Kajihara, Ichijiro Murata, Saori Yamamoto, Satoshi Yamashita, Hitoshi Sugiyama, Kei Murayama, Kaori Miyata, Teiko Sakai, Koichi Tamita, Chu Guili, Toshihiro Kawasaki, Shigeru Toyoda, Hiroshi Satoh, Koichiro Sugimura, Takamasa Oda, Akifumi Onishi, Shigehisa Ura, Takeo Fujimura, Hideki Takano
Publikováno v:
Genetics in Medicine
Purpose Plasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females. Met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b7dd43b5aa20df236a268667564a8ee
https://doi.org/10.1038/gim.2018.31
https://doi.org/10.1038/gim.2018.31
Autor:
Eva Krusinska, Daniel G. Bichet, Nina Skuban, Atul Mehta, Hiroki Maruyama, Christiane Auray-Blais, Raphael Schiffmann, Johannes M. F. G. Aerts
Publikováno v:
Genetics in Medicine, 23(1), 238
Genetics in Medicine
Genetics in Medicine
To assess the utility of globotriaosylsphingosine (lyso-GbA post hoc analysis evaluated data from 97 treatment-naive and enzyme replacement therapy (ERT)-experienced patients with migalastat-amenable GLA variants from FACETS (NCT00925301) and ATTRACT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a79937a9dbb7637ddf7065c9d924e1
https://www.sciencedirect.com/science/article/pii/S1098360021025302?via=ihub
https://www.sciencedirect.com/science/article/pii/S1098360021025302?via=ihub
Autor:
Antonio González-Meneses, Rocío Delarosa-Rodríguez, Paula Hernández-Arévalo, Salvador García-Morillo, Jose D Santotoribio, Pilar Jiménez-Arriscado, Juan Manuel Guerrero, Hada C. Macher
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::81350d07e8fb16b1cc593f86d56cc98a
https://doi.org/10.1111/cge.13936/v2/response1
https://doi.org/10.1111/cge.13936/v2/response1
Autor:
Maria Dolores Sanchez-Niño, Jaime Esteban, Juan Politei, Teresa Requena, Alberto Ortiz, John-Jairo Aguilera-Correa
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Fabry disease is characterized by lyso-Gb3 accumulation, gastrointestinal symptoms and severe nephropathy and myocardiopathy. Clinically relevant lyso-Gb3 concentrations disrupt the gut microbiota homeostasis. Biofilm formation by enteric bacteria is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61c08774a4aac6000568fa79e3947bbe
https://pubmed.ncbi.nlm.nih.gov/32271110
https://pubmed.ncbi.nlm.nih.gov/32271110
Autor:
Alberto Ortiz, Jaime Esteban, Carmen Peláez, María del Carmen Martínez-Cuesta, Teresa Requena, John-Jairo Aguilera-Correa, Patricia Madrazo-Clemente, Maria Dolores Sanchez-Niño
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-1 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-1 (2020)
Fabry disease is a rare X-linked lysosomal storage disorder resulting from deficient activity of α-galactosidase A, leading to the accumulation of glycosphingolipids such as globotriaosylsphingosine (lyso-Gb3). The gastrointestinal symptoms of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b179161bc4756cda7797f1b2763ec1a0
https://doi.org/10.1038/s41598-020-62302-6
https://doi.org/10.1038/s41598-020-62302-6
Publikováno v:
Neuropediatrics. 48:S1-S45
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae03683b441cb63eb49476319bb528f4
https://doi.org/10.1055/s-0037-1603009
https://doi.org/10.1055/s-0037-1603009
Autor:
Sari Alon, Gustavo Maegawa, Simeon Boyd, Mohamed G. Atta, Myrl Holida, Robert B. Colvin, Ozlem Goker-Alpan, Kathy Nicholls, Ahmad Tuffaha, Derlis Gonzales, Derralynn Hughes, J. Charles Jennette, Pilar Giraldo, Mali Szlaifer, Raul Chertkoff, Einat Brill-Almon, Raphael Schiffmann, Laura Barisoni
Publikováno v:
Molecular Genetics and Metabolism. 129:S76-S77
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51f1531a46901b74095174e7ff084991
https://doi.org/10.1016/j.ymgme.2019.11.185
https://doi.org/10.1016/j.ymgme.2019.11.185