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1.

G protein-coupled receptor (GPCR) gene variants and human genetic disease.

Thompson, Miles D; Percy, Maire E; Cole, David E C; Bichet, Daniel G; Hauser, Alexander S; Gorvin, Caroline M.

Crit Rev Clin Lab Sci; : 1-30, 2024 Mar 18.

Artículo en Inglés | MEDLINE | ID: mdl-38497103

2.

Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.

Hughes, Derralynn A; Bichet, Daniel G; Giugliani, Roberto; Hopkin, Robert J; Krusinska, Eva; Nicholls, Kathleen; Olivotto, Iacopo; Feldt-Rasmussen, Ulla; Sakai, Norio; Skuban, Nina; Sunder-Plassmann, Gere; Torra, Roser; Wilcox, William R.

J Med Genet; 60(7): 722-731, 2023 07.

Artículo en Inglés | MEDLINE | ID: mdl-36543533

3.

Vaptans or voluntary increased hydration to protect the kidney: how do they compare?

Bankir, Lise; Guerrot, Dominique; Bichet, Daniel G.

Nephrol Dial Transplant; 38(3): 562-574, 2023 02 28.

Artículo en Inglés | MEDLINE | ID: mdl-34586414

4.

Regulation of Thirst and Vasopressin Release.

Bichet, Daniel G.

Annu Rev Physiol; 81: 359-373, 2019 02 10.

Artículo en Inglés | MEDLINE | ID: mdl-30742785

5.

Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots.

Boutin, Michel; Lavoie, Pamela; Beaudon, Margot; Kabala Ntumba, Georges; Bichet, Daniel G; Maranda, Bruno; Auray-Blais, Christiane.

Int J Mol Sci; 24(4)2023 Feb 06.

Artículo en Inglés | MEDLINE | ID: mdl-36834643

6.

Assessment of plasma lyso-Gb₃ for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease.

Bichet, Daniel G; Aerts, Johannes M; Auray-Blais, Christiane; Maruyama, Hiroki; Mehta, Atul B; Skuban, Nina; Krusinska, Eva; Schiffmann, Raphael.

Genet Med; 23(1): 192-201, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-32994552

7.

Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products.

Sirrs, Sandra M; Arthus, Marie-Francoise; Bichet, Daniel G; Rockman-Greenberg, Cheryl; LeMoine, Kaye; Morel, Chantal F; Lachmann, Robin; Lynd, Larry D; Wasim, Syed; West, Michael L; Hollak, Carla.

Value Health; 24(2): 268-273, 2021 02.

Artículo en Inglés | MEDLINE | ID: mdl-33518033

8.

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Germain, Dominique P; Oliveira, João Paulo; Bichet, Daniel G; Yoo, Han-Wook; Hopkin, Robert J; Lemay, Roberta; Politei, Juan; Wanner, Christoph; Wilcox, William R; Warnock, David G.

J Med Genet; 57(8): 542-551, 2020 08.

Artículo en Inglés | MEDLINE | ID: mdl-32161151

9.

Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.

Boutin, Michel; Lavoie, Pamela; Menkovic, Iskren; Toupin, Amanda; Abaoui, Mona; Elidrissi-Elawad, Maha; Arthus, Marie-Françoise; Fortier, Carole; Ménard, Claudia; Maranda, Bruno; Bichet, Daniel G; Auray-Blais, Christiane.

Int J Mol Sci; 21(17)2020 Aug 25.

Artículo en Inglés | MEDLINE | ID: mdl-32854306

10.

What can copeptin tell us in patients with autosomal dominant polycystic disease?

Bankir, Lise; Bichet, Daniel G.

Kidney Int; 96(1): 19-22, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-31229028

11.

Aquaporin-1 Expression and Ultrafiltration of the Peritoneal Membrane.

Bichet, Daniel G.

N Engl J Med; 385(17): 1617-1619, 2021 10 21.

Artículo en Inglés | MEDLINE | ID: mdl-34670049

12.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain, Dominique P; Hughes, Derralynn A; Nicholls, Kathleen; Bichet, Daniel G; Giugliani, Roberto; Wilcox, William R; Feliciani, Claudio; Shankar, Suma P; Ezgu, Fatih; Amartino, Hernan; Bratkovic, Drago; Feldt-Rasmussen, Ulla; Nedd, Khan; Sharaf El Din, Usama; Lourenco, Charles M; Banikazemi, Maryam; Charrow, Joel; Dasouki, Majed; Finegold, David; Giraldo, Pilar; Goker-Alpan, Ozlem; Longo, Nicola; Scott, C Ronald; Torra, Roser; Tuffaha, Ahmad; Jovanovic, Ana; Waldek, Stephen; Packman, Seymour; Ludington, Elizabeth; Viereck, Christopher; Kirk, John; Yu, Julie; Benjamin, Elfrida R; Johnson, Franklin; Lockhart, David J; Skuban, Nina; Castelli, Jeff; Barth, Jay; Barlow, Carrolee; Schiffmann, Raphael.

N Engl J Med; 375(6): 545-55, 2016 Aug 11.

Artículo en Inglés | MEDLINE | ID: mdl-27509102

13.

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Germain, Dominique P; Nicholls, Kathy; Giugliani, Roberto; Bichet, Daniel G; Hughes, Derralynn A; Barisoni, Laura M; Colvin, Robert B; Jennette, J Charles; Skuban, Nina; Castelli, Jeffrey P; Benjamin, Elfrida; Barth, Jay A; Viereck, Christopher.

Genet Med; 21(9): 1987-1997, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-30723321

14.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

Ramaswami, Uma; Bichet, Daniel G; Clarke, Lorne A; Dostalova, Gabriela; Fainboim, Alejandro; Fellgiebel, Andreas; Forcelini, Cassiano M; An Haack, Kristina; Hopkin, Robert J; Mauer, Michael; Najafian, Behzad; Scott, C Ronald; Shankar, Suma P; Thurberg, Beth L; Tøndel, Camilla; Tylki-Szymanska, Anna; Bénichou, Bernard; Wijburg, Frits A.

Mol Genet Metab; 127(1): 86-94, 2019 05.

Artículo en Inglés | MEDLINE | ID: mdl-30987917

15.

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.

Arends, Maarten; Biegstraaten, Marieke; Wanner, Christoph; Sirrs, Sandra; Mehta, Atul; Elliott, Perry M; Oder, Daniel; Watkinson, Oliver T; Bichet, Daniel G; Khan, Aneal; Iwanochko, Mark; Vaz, Frédéric M; van Kuilenburg, André B P; West, Michael L; Hughes, Derralynn A; Hollak, Carla E M.

J Med Genet; 55(5): 351-358, 2018 05.

Artículo en Inglés | MEDLINE | ID: mdl-29437868

16.

What's in a name? That which we call diabetes does not taste sweet!

Bockenhauer, Detlef; Knoers, Nine V A M; Bichet, Daniel G.

Pediatr Nephrol; 38(4): 937-939, 2023 04.

Artículo en Inglés | MEDLINE | ID: mdl-36369299

17.

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Hughes, Derralynn A; Nicholls, Kathleen; Shankar, Suma P; Sunder-Plassmann, Gere; Koeller, David; Nedd, Khan; Vockley, Gerard; Hamazaki, Takashi; Lachmann, Robin; Ohashi, Toya; Olivotto, Iacopo; Sakai, Norio; Deegan, Patrick; Dimmock, David; Eyskens, François; Germain, Dominique P; Goker-Alpan, Ozlem; Hachulla, Eric; Jovanovic, Ana; Lourenco, Charles M; Narita, Ichiei; Thomas, Mark; Wilcox, William R; Bichet, Daniel G; Schiffmann, Raphael; Ludington, Elizabeth; Viereck, Christopher; Kirk, John; Yu, Julie; Johnson, Franklin; Boudes, Pol; Benjamin, Elfrida R; Lockhart, David J; Barlow, Carrolee; Skuban, Nina; Castelli, Jeffrey P; Barth, Jay; Feldt-Rasmussen, Ulla.

J Med Genet; 54(4): 288-296, 2017 04.

Artículo en Inglés | MEDLINE | ID: mdl-27834756

18.

Vasopressin and the Regulation of Thirst.

Bichet, Daniel G.

Ann Nutr Metab; 72 Suppl 2: 3-7, 2018.

Artículo en Inglés | MEDLINE | ID: mdl-29925072

19.

MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2.

Coady, Michael J; El Tarazi, Abdulah; Santer, René; Bissonnette, Pierre; Sasseville, Louis J; Calado, Joaquim; Lussier, Yoann; Dumayne, Christopher; Bichet, Daniel G; Lapointe, Jean-Yves.

J Am Soc Nephrol; 28(1): 85-93, 2017 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-27288013

20.

Hepatocyte Nuclear Factor-1ß Regulates Urinary Concentration and Response to Hypertonicity.

Aboudehen, Karam; Noureddine, Lama; Cobo-Stark, Patricia; Avdulov, Svetlana; Farahani, Shayan; Gearhart, Micah D; Bichet, Daniel G; Pontoglio, Marco; Patel, Vishal; Igarashi, Peter.

J Am Soc Nephrol; 28(10): 2887-2900, 2017 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-28507058

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G protein-coupled receptor (GPCR) gene variants and human genetic disease.

Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.

Vaptans or voluntary increased hydration to protect the kidney: how do they compare?

Regulation of Thirst and Vasopressin Release.

Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots.

Assessment of plasma lyso-Gb₃ for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease.

Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products.

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.

What can copeptin tell us in patients with autosomal dominant polycystic disease?

Aquaporin-1 Expression and Ultrafiltration of the Peritoneal Membrane.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.

What's in a name? That which we call diabetes does not taste sweet!

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Vasopressin and the Regulation of Thirst.

MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2.

Hepatocyte Nuclear Factor-1ß Regulates Urinary Concentration and Response to Hypertonicity.