Results 211 to 220 of about 9,399,207 (308)

Multidisciplinary Care Model as a Center of Excellence for Fabry Disease: A Practical Guide to Diagnosis and Management by Clinical Specialty in South Korea [PDF]

Soo Yong Lee, Il Young Kim, Sung‐Ho Ahn, Su Jin Kim, Hyun Min Lee, Ji Eun Lee, Gyeong‐Jo Byeon, Hyun‐Chang Ko, Hyun Jung Lee, Songhwa Choi, Chong Kun Cheon   +10 more
openalex   +1 more source

A case of cardiac involvement in Fabry disease caused by the p.D313Y variant of the GLA-gene. [PDF]

Eur Heart J Case Rep
Schnieder AL, Zellerhoff S, Bremer C, Özgün MA.   +3 more
europepmc   +1 more source

Anderson-Fabry′s Disease

, 2001
Coondoo Arijit, Banerjee Raghubir, Ghosh Arghyaprasun   +2 more
openalex   +1 more source

Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy. [PDF]

Int J Mol Sci
Grimaldi A, Auletta A, Ciurli F, Aiello V, Vischini G, Fabbrizio B, Becherucci F, Pasquinelli G, La Manna G, Capelli I, Mignani R.   +10 more
europepmc   +1 more source

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension [PDF]

Peter Nordbeck, Ozlem Goker-Alpan, John A. Bernat, Dominique P. Germain, Pilar on behalf of GEEDL Giraldo, Ana Jovanovic, Virginia Kimonis, Kathy Nicholls, Cheryl Rockman-Greenberg, Raphael Schiffmann, Mark Thomas, Anna Tylki-Szymanska, Eric Wallace, W. D. Welford Richard, Michael L. West, Martine Clozel, Aline Frey, Luba Trokan, Markus S. Mueller, Markus Vogler, Christoph Wanner, Derralynn Hughes   +21 more
openalex   +1 more source

Fabry Disease Nephropathy: Compendium of "in vitro" and "in vivo" Renal Effects of Globotriaosylsphingosine.

Kidney Blood Press Res
Jaurretche SPA, Del Rosal MV, Brajkovic ML, Isaac JI, Venera G, Pérez G.   +5 more
europepmc   +1 more source

Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation. [PDF]

NPJ Genom Med
Wallraven T, Regenbogen C, Günthner R, Ribeiro A, Carbajo-Lozoya J, Hannane N, Wunderle M, Assaf A, Lech M, Hanssen H, Streese L, Hughes D, Haller B, Kotliar K, Heemann U, Schmaderer C.   +15 more
europepmc   +1 more source

Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy. [PDF]

Front Genet
Li L, Chang T, Li X, Hao Y, Deng M, Li Y.   +5 more
europepmc   +1 more source

Do we need more intensive enzyme replacement therapy for Anderson-Fabry disease? [PDF]

, 2009
Bašić-Jukić, Nikolina, Kes, Petar, Mokos, Ivica, Ćorić, Marijana   +3 more
core   +1 more source

Genetics and Gene Therapy of Anderson-Fabry Disease

, 2018
Irene Simonetta, Antonino Tuttolomondo, Tiziana Di Chiara, Salvatore Miceli, Danai Vogiatzis, Francesca Corpora, António Pinto   +6 more
openalex   +2 more sources