Zobrazeno 1 - 10
of 470
pro vyhledávání: '"Daniel G, Bichet"'
Autor:
Ronald D. Perrone, Dorothee Oberdhan, John Ouyang, Daniel G. Bichet, Klemens Budde, Arlene B. Chapman, Berenice Y. Gitomer, Shigeo Horie, Albert C.M. Ong, Vicente E. Torres, A. Neil Turner, Holly Krasa
Publikováno v:
Kidney International Reports, Vol 8, Iss 5, Pp 989-1001 (2023)
Introduction: The course of autosomal dominant polycystic kidney disease (ADPKD) varies greatly among affected individuals, necessitating natural history studies to characterize the determinants and effects of disease progression. Therefore, we condu
Externí odkaz:
https://doaj.org/article/6263893d07674a6789c237002dc53cb4
Autor:
Daniel G. Bichet, Robert J. Hopkin, Patrício Aguiar, Sridhar R. Allam, Yin-Hsiu Chien, Roberto Giugliani, Staci Kallish, Sabina Kineen, Olivier Lidove, Dau-Ming Niu, Iacopo Olivotto, Juan Politei, Paul Rakoski, Roser Torra, Camilla Tøndel, Derralynn A. Hughes
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
ObjectiveFabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral chaperone therapy migalastat to
Externí odkaz:
https://doaj.org/article/95cf0962320c4c5da4b8e36cf0ea24fc
Vasopressin Use in the Support of Organ Donors: Physiological Rationale and Review of the Literature
Autor:
Sofiane Ouerd, MD, MSc, Anne Julie Frenette, PharmD, PhD, David Williamson, BPharm, PhD, Karim Serri, MD, Frederick D’Aragon, MD, MSc, Daniel G. Bichet, MD, Emmanuel Charbonney, MD, PhD
Publikováno v:
Critical Care Explorations, Vol 5, Iss 4, p e0907 (2023)
OBJECTIVES:. The objective of this review was to depict the physiological and clinical rationale for the use of vasopressin in hemodynamic support of organ donors. After summarizing the physiological, pharmacological concepts and preclinical findings
Externí odkaz:
https://doaj.org/article/57ee347afaa04d46876709e67b140550
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 29, Iss , Pp 100807- (2021)
Externí odkaz:
https://doaj.org/article/f9b02964e6f646bc9cee6c10c8e6d13b
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
Autor:
Pierre Bissonnette, Yoann Lussier, Jessica Matar, Alexandre Leduc‐Nadeau, Sandra Da Cal, Marie‐Françoise Arthus, Robert J. Unwin, Julia Steinke, Dharshan Rangaswamy, Daniel G. Bichet
Publikováno v:
Physiological Reports, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Aquaporin‐2 (AQP2) is a homotetrameric water channel responsible for the final water reuptake in the kidney. Disease‐causing AQP2 mutations induce nephrogenic diabetes insipidus (NDI), a condition that challenges the bodily water balance
Externí odkaz:
https://doaj.org/article/aa0c019621244c8c983c7ae83b1bb46e
Autor:
Raphael Schiffmann, Daniel G. Bichet, Ana Jovanovic, Derralynn A. Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P. Shankar, Laura Barisoni, Robert B. Colvin, J. Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P. Castelli, Nina Skuban, Jay A. Barth, Kathleen Nicholls
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract 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. M
Externí odkaz:
https://doaj.org/article/5e779a69a2964f6c8462aa2e8b74ad76
Publikováno v:
Pediatric Nephrology, 38, 937-939. SPRINGER
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::154a7dcaa9efeb1df3cc9e33031f4f50
https://doi.org/10.1007/s00467-022-05815-8
https://doi.org/10.1007/s00467-022-05815-8
Autor:
Reema Habiby, Daniel G Bichet, Marie-Francoise Arthus, Dervia Connaughton, Shirlee Shril, Shrikant Mane, Amar J Majmundar, Friedhelm Hildebrandt, Gary L Robertson
Publikováno v:
J Clin Endocrinol Metab
Context Familial pituitary diabetes insipidus has been described only in an autosomal dominant or recessive mode of inheritance. Objective This work aims to determine the cause of a novel form of familial diabetes insipidus (DI) that is controlled by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf17bc06999639092346fbdc718c5327
https://doi.org/10.1210/clinem/dgac076
https://doi.org/10.1210/clinem/dgac076
Autor:
Detlef, Bockenhauer, Daniel G, Bichet
Publikováno v:
American Journal of Nephrology. 53:249-252
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::853401d63c3873fb5118213206164665
https://doi.org/10.1159/000522227
https://doi.org/10.1159/000522227