Results 91 to 100 of about 4,096 (231)

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]

, 2013
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Giese, A-K, Grittner, U, Kolodny, E, Lackner, KJ, Lukas, J, Markoff, A, Mascher, H, Meyer, W, Rolfs, A, Saviouk, V, Wree, P   +10 more
core   +3 more sources

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies

European Journal of Pain, Volume 29, Issue 1, January 2025.
Abstract Background Fabry disease (FD) is a rare X‐linked lysosomal disorder caused by alpha‐galactosidase deficiency consecutive to a pathogenic variant in the GLA gene. Age at onset is highly variable, with a wide clinical spectrum including frequent renal, cardiac, skin and nervous system manifestations.
Chloé Angelini, Claire Bar, Marie Pierre Baudier, Patricia Fergelot, Gwenaëlle Lancelot, Caroline Rooryck, Dominique P. Germain, Firas Jabbour, Anne‐Sophie Blanchet, Alexandre Cauchie, Elisabeth Sarrazin, Rémi Bellance, Jean‐Pascal Lefaucheur, Julie Bismuth, Stéphanie Ranque‐Garnier, Virginie Corand, Isabelle Coupry, Cyril Goizet, The DOUFABIS Consortium, Myriam Cadenne, Anne‐Sophie Blanchet, Sylvie Berciaud, Alexandre Cauchie, Virginie Corand, Laurence David, Nathalie Cantagrel, Stéphanie Ranque‐Garnier, Maud Martial, Géraldine De Montgazon, Caroline Maindet‐Dominici, Eric Salvat, Elizabeth Sarrazin, Rémi Bellance, Jean‐Michel Wattier, Stéphanie Roggerone, Virgine Piano, Jean‐Pascal Lefaucheur, Julie Bismuth, Marc Sorel   +38 more
wiley   +1 more source

Multiple angiokeratomas of fordyce [PDF]

, 2020
Kaoutar Laamari, Hanane Baybay, Chaymae jroundi, Zakia Douhi, Sara Elloudi, Fatima Zahra Mernissi   +5 more
openalex   +1 more source

A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Pegunigalsidase alfa, a PEGylated α‐galactosidase A enzyme replacement therapy (ERT) for Fabry disease, has a longer plasma half‐life than other ERTs administered intravenously every 2 weeks (E2W). BRIGHT (NCT03180840) was a phase III, open‐label study in adults with Fabry disease, previously treated with agalsidase alfa or beta E2W for ≥3 ...
Myrl Holida, Aleš Linhart, Antonio Pisani, Nicola Longo, François Eyskens, Ozlem Goker‐Alpan, Eric Wallace, Patrick Deegan, Camilla Tøndel, Ulla Feldt‐Rasmussen, Derralynn Hughes, Anat Sakov, Rossana Rocco, Einat Brill Almon, Sari Alon, Raul Chertkoff, David G. Warnock, Stephen Waldek, William R. Wilcox, John A. Bernat   +19 more
wiley   +1 more source

Guidelines for diagnosis, monitoring and treatment of Fabry disease. [PDF]

, 2013
La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A.
Amartino, Hernan, Antongiovanni, Norberto, Cabrera, Gustavo Javier, Carmona, Sergio, Ceci, Romina, Choua, Martin, Ciceran, Alberto, Consenso de médicos de Asociación de Estudios y Difusión de las Enfermedades Lisosomales, De Maio, Sonia, Doxastakis, Griselda, Ebner, Roberto, Escobar, Ana Maria, Fainboim, Alejandro, Ferrari, Gustavo, Forrester, Mariano, Grupo Argentino de Diagnóstico y Tratamiento de la enfermedad de Fabry, Guelbert, Norberto Bernardo, Kisinovsky, Isaac, Luna, Paula, Marchesoni, Cinthia, Masllorens, Francisca, Neumann, Pablo, Politei, Juan, Reisin, Ricardo, Ripeau, Diego, Rozenfeld, Paula Adriana, Serebrinsky, Graciela, Tarabuso, Ana Lia, Tripoli, Juan   +28 more
core  

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract Fabry disease is an X‐linked lysosomal disease caused by variants in the GLA gene. Although Fabry disease is X‐linked, GLA gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X‐linked recessive disease.
Alison C. Leslie, Jeanine Jarnes, Alia Ahmed, Sofia Shrestha, Jeffrey Wang, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Angiokeratoma Circumscriptum Naeviforme and Klippel–Trenaunay Syndrome: A Diagnostic Enigma

Indian Journal of Paediatric Dermatology
Angiokeratoma circumscriptum naeviforme (ACN) is a rare subtype of angiokeratoma, characterized by capillary ectasias in the papillary dermis and presenting as hyperkeratotic, bluish-red plaques primarily along Blaschko’s lines on the lower limbs ...
Aanchal Bansal, Sachdeep Kaur, Surabhi Dayal, Chinmay Kumar Mandal   +3 more
doaj   +1 more source

Genetic variants associated with gastrointestinal symptoms in Fabry disease. [PDF]

, 2016
Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A.
Agapito, Giuseppe, Altomare, Federica, Arbitrio, Mariamena, Borrelli, Osvaldo, Concolino, Daniela, Di Martino, Maria Teresa, Guzzi, Pietro Hiram, Nicoletti, Angela, Pensabene, Licia, Pisani, Antonio, Riccio, Eleonora, Sanseviero, Maria Teresa, Scionti, Francesca, Sestito, Simona, Talarico, Valentina   +14 more
core   +1 more source

Angiokeratoma with lysosomal dilatation in keratinocytes in a dog: a case report

Veterinární Medicína, 2014
Herein, we report the histopathology of angiokeratoma characterised by non-invasive, proliferative, ectatic vascular malformations accompanying lysosomal dilation in the canine skin.
H.K. Lim, H.J. Kim, H.R. Lee, S. Han, S.H. Do   +4 more
doaj   +1 more source

Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy. [PDF]

, 2017
Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors.
Barbey, F., Dormond, O., Hajdu, S., Monney, P., Qanadli, S.D., Schwitter, J., Tran, C.   +6 more
core   +1 more source