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Enzyme replacement therapy

Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy

André Lollert, Clemens Stihl, Andreas M. Hötker, Eugen Mengel, Jochem König, Katharina Laudemann, Seyfullah Gökce, Christoph Düber, Gundula Staatz

published 09 Jan 2018

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Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis

Alícia Dorneles Dornelles, Osvaldo Artigalás, André Anjos da Silva, Dora Lucia Vallejo Ardila, Taciane Alegra, Tiago Veiga Pereira, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz

published 31 Aug 2017

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Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors

Maarten Arends, Marieke Biegstraaten, Derralynn A. Hughes, Atul Mehta, Perry M. Elliott, Daniel Oder, Oliver T. Watkinson, Frédéric M. Vaz, André B. P. van Kuilenburg, Christoph Wanner, Carla E. M. Hollak

published 01 Aug 2017

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Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study

Daniel P. Franzen, Albina Nowak, Sarah R. Haile, Dominique Mottet, Marco Bonani, Olivier Dormond, Malcolm Kohler, Pierre A. Krayenbuehl, Frederic Barbey

published 25 Jul 2017

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Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy

Rocco Liguori, Alex Incensi, Silvia de Pasqua, Renzo Mignani, Enrico Fileccia, Marisa Santostefano, Elena Biagini, Claudio Rapezzi, Silvia Palmieri, Ilaria Romani, Walter Borsini, Alessandro Burlina, Roberto Bombardi, Marco Caprini, Patrizia Avoni, Vincenzo Donadio

published 03 Jul 2017

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Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies

Regina El Dib, Huda Gomaa, Alberto Ortiz, Juan Politei, Anil Kapoor, Fellype Barreto

published 15 Mar 2017

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Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy

Brent Fall, C. Ronald Scott, Michael Mauer, Stuart Shankland, Jeffrey Pippin, Jonathan A. Jefferson, Eric Wallace, David Warnock, Behzad Najafian

published 16 Dec 2016

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Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease

Renuka Pudi Limgala, Chidima Ioanou, Matthew Plassmeyer, Mark Ryherd, Lina Kozhaya, Lauren Austin, Cem Abidoglu, Derya Unutmaz, Oral Alpan, Ozlem Goker-Alpan

published 12 Dec 2016

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Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease

Nurcan Üçeyler, Nils Schröter, Waldemar Kafke, Daniela Kramer, Christoph Wanner, Frank Weidemann, Claudia Sommer

published 16 Nov 2016

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Uric Acid as a Marker of Mortality and Morbidity in Fabry Disease

Daniel Rob, Josef Marek, Gabriela Dostálová, Lubor Goláň, Aleš Linhart

published 11 Nov 2016

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Specificity of a Polyclonal Fecal Elastase ELISA for CELA3

Frank Ulrich Weiss, Christoph Budde, Markus M. Lerch

published 26 Jul 2016

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One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease

Behzad Najafian, Camilla Tøndel, Einar Svarstad, Alexey Sokolovkiy, Kelly Smith, Michael Mauer

published 15 Apr 2016

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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

David G. Warnock, Daniel G. Bichet, Myrl Holida, Ozlem Goker-Alpan, Kathy Nicholls, Mark Thomas, Francois Eyskens, Suma Shankar, Mathews Adera, Sheela Sitaraman, Richie Khanna, John J. Flanagan, Brandon A. Wustman, Jay Barth, Carrolee Barlow, Kenneth J. Valenzano, David J. Lockhart, Pol Boudes, Franklin K. Johnson

published 07 Aug 2015

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