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	101.	Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry. [electronic resource] by Auray-Blais, Christiane Blais, Catherine-Marie Ramaswami, Uma Boutin, Michel Germain, Dominique P Dyack, Sarah Bodamer, Olaf Pintos-Morell, Guillem Clarke, Joe T R Bichet, Daniel G Warnock, David G Echevarria, Lucia West, Michael L Lavoie, Pamela Producer: 20150728 In: Clinica chimica acta; international journal of clinical chemistry vol. 438 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	Clinical practice guideline on diagnosis and treatment of hyponatraemia. [electronic resource] by Spasovski, Goce Vanholder, Raymond Allolio, Bruno Annane, Djillali Ball, Steve Bichet, Daniel Decaux, Guy Fenske, Wiebke Hoorn, Ewout J Ichai, Carole Joannidis, Michael Soupart, Alain Zietse, Robert Haller, Maria van der Veer, Sabine Van Biesen, Wim Nagler, Evi Producer: 20141022 In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association vol. 29 Suppl 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	Clinical practice guideline on diagnosis and treatment of hyponatraemia. [electronic resource] by Spasovski, Goce Vanholder, Raymond Allolio, Bruno Annane, Djillali Ball, Steve Bichet, Daniel Decaux, Guy Fenske, Wiebke Hoorn, Ewout J Ichai, Carole Joannidis, Michael Soupart, Alain Zietse, Robert Haller, Maria van der Veer, Sabine Van Biesen, Wim Nagler, Evi Producer: 20140331 In: European journal of endocrinology vol. 170 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L. [electronic resource] by de Mattia, Fabrizio Savelkoul, Paul J M Bichet, Daniel G Kamsteeg, Erik-Jan Konings, Irene B M Marr, Nannette Arthus, Marie-Françoise Lonergan, Michèle van Os, Carel H van der Sluijs, Peter Robertson, Gary Deen, Peter M T Producer: 20050419 In: Human molecular genetics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	A validated disease severity scoring system for Fabry disease. [electronic resource] by Giannini, Edward H Mehta, Atul B Hilz, Max J Beck, Michael Bichet, Daniel G Brady, Roscoe O West, Michael Germain, Dominique P Wanner, Christoph Waldek, Stephen Clarke, Joe T R Mengel, Eugen Strotmann, Jörg M Warnock, David G Linhart, Ales Producer: 20100518 In: Molecular genetics and metabolism vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	[The 2000 years]. [electronic resource] by Peschanski, Marc Bergeron, Michel Boué, André Coppens, Yves Changeux, Jean-Pierre Corvol, Pierre Lazar, Philippe Kahn, Axel Bichet, Daniel G Friedlander, Gérard Epelbaum, Jacques Kroemer, Guido Chneiweiss, Hervé Munnich, Arnold Bouvier, Michel Jordan, Bertrand Frydman, René Morange, Michel Fougereau, Michel Producer: 20150707 In: Medecine sciences : M/S vol. 31 Spec No 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families. [electronic resource] by Paul, Binu M Consugar, Mark B Ryan Lee, Moonnoh Sundsbak, Jamie L Heyer, Christina M Rossetti, Sandro Kubly, Vickie J Hopp, Katharina Torres, Vicente E Coto, Eliecer Clementi, Maurizio Bogdanova, Nadja de Almeida, Edgar Bichet, Daniel G Harris, Peter C Producer: 20140929 In: Kidney international vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	Clinical practice guideline on diagnosis and treatment of hyponatraemia. [electronic resource] by Spasovski, Goce Vanholder, Raymond Allolio, Bruno Annane, Djillali Ball, Steve Bichet, Daniel Decaux, Guy Fenske, Wiebke Hoorn, Ewout J Hoorn, Ewout Ichai, Carole Joannidis, Michael Soupart, Alain Zietse, Robert Haller, Maria van der Veer, Sabine Van Biesen, Wim Nagler, Evi Producer: 20180117 In: Intensive care medicine vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial. [electronic resource] by Schiffmann, Raphael Bichet, Daniel G Jovanovic, Ana Hughes, Derralynn A Giugliani, Roberto Feldt-Rasmussen, Ulla Shankar, Suma P Barisoni, Laura Colvin, Robert B Jennette, J Charles Holdbrook, Fred Mulberg, Andrew Castelli, Jeffrey P Skuban, Nina Barth, Jay A Nicholls, Kathleen Producer: 20190415 In: Orphanet journal of rare diseases vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study. [electronic resource] by 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 Producer: 20190923 In: Journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? [electronic resource] by Auray-Blais, Christiane Ntwari, Aimé Clarke, Joe T R Warnock, David G Oliveira, João Paulo Young, Sarah P Millington, David S Bichet, Daniel G Sirrs, Sandra West, Michael L Casey, Robin Hwu, Wuh-Liang Keutzer, Joan M Zhang, X Kate Gagnon, René Producer: 20110119 In: Clinica chimica acta; international journal of clinical chemistry vol. 411 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	Hyponatraemia diagnosis and treatment clinical practice guidelines. [electronic resource] by Spasovski, Goce Vanholder, Raymond Allolio, Bruno Annane, Djillali Ball, Steve Bichet, Daniel Decaux, Guy Fenske, Wiebke Hoorn, Ewout J Ichai, Carole Joannidis, Michael Soupart, Alain Zietse, Robert Haller, Maria van der Veer, Sabine van Biesen, Wim Nagler, Evi Gonzalez-Espinoza, Liliana Ortiz, Alberto Publication details: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia In: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. [electronic resource] by Wijburg, Frits A Bénichou, Bernard Bichet, Daniel G Clarke, Lorne A Dostalova, Gabriela Fainboim, Alejandro Fellgiebel, Andreas Forcelini, Cassiano An Haack, Kristina Hopkin, Robert J Mauer, Michael Najafian, Behzad Scott, C Ronald Shankar, Suma P Thurberg, Beth L Tøndel, Camilla Tylki-Szymańska, Anna Ramaswami, Uma Producer: 20160201 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry. [electronic resource] by Ortiz, Alberto Abiose, Ademola Bichet, Daniel G Cabrera, Gustavo Charrow, Joel Germain, Dominique P Hopkin, Robert J Jovanovic, Ana Linhart, Aleš Maruti, Sonia S Mauer, Michael Oliveira, João P Patel, Manesh R Politei, Juan Waldek, Stephen Wanner, Christoph Yoo, Han-Wook Warnock, David G Producer: 20171101 In: Journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	115.	Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. [electronic resource] by Warnock, David G Bichet, Daniel G Holida, Myrl Goker-Alpan, Ozlem Nicholls, Kathy Thomas, Mark Eyskens, Francois Shankar, Suma Adera, Mathews Sitaraman, Sheela Khanna, Richie Flanagan, John J Wustman, Brandon A Barth, Jay Barlow, Carrolee Valenzano, Kenneth J Lockhart, David J Boudes, Pol Johnson, Franklin K Producer: 20160508 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial. [electronic resource] by 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 Producer: 20191115 In: Molecular genetics and metabolism vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. [electronic resource] by Benjamin, Elfrida R Della Valle, Maria Cecilia Wu, Xiaoyang Katz, Evan Pruthi, Farhana Bond, Sarah Bronfin, Benjamin Williams, Hadis Yu, Julie Bichet, Daniel G Germain, Dominique P Giugliani, Roberto Hughes, Derralynn Schiffmann, Raphael Wilcox, William R Desnick, Robert J Kirk, John Barth, Jay Barlow, Carrolee Valenzano, Kenneth J Castelli, Jeff Lockhart, David J Producer: 20180116 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	118.	Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. [electronic resource] by Marr, Nannette Bichet, Daniel G Hoefs, Susan Savelkoul, Paul J M Konings, Irene B M De Mattia, Fabrizio Graat, Michael P J Arthus, Marie-Françoise Lonergan, Michele Fujiwara, T Mary Knoers, Nine V A M Landau, Daniel Balfe, William J Oksche, Alexander Rosenthal, Walter Müller, Dominik Van Os, Carel H Deen, Peter M T Producer: 20030211 In: Journal of the American Society of Nephrology : JASN vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. [electronic resource] by 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 Producer: 20160816 In: The New England journal of medicine vol. 375 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	120.	Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. [electronic resource] by 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 Producer: 20171103 In: Journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 120 results.