Results 181 to 190 of about 134,977 (268)

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source

Staging of Fabry cardiomyopathy in clinical practice: an algorithm proposal. [PDF]

Int J Cardiol Heart Vasc
Fortuna I, Santos J, Machado R, Lobo A, Queirós C, Gavina C, António N, Rodrigues P, Fontes-Carvalho R, Correia S, Limongelli G, Martins E.   +11 more
europepmc   +1 more source

Longitudinal Adipokine and Lipid Profiles in Fabry Disease. [PDF]

J Clin Med
Gatterer C, Allmer D, Beitzke D, Graf S, Hohensinner P, Ponleitner M, Steinacher E, Schmidt A, Sunder-Plassmann G, Rommer P, Lenz M.   +10 more
europepmc   +1 more source

The insidious degeneration of white matter and cognitive decline in Fabry disease. [PDF]

PLoS One
Johnson JW, Baradaran H, Morgan J, Odèen H, Friel E, Bailey C, Zielinski BA, Underhill HR.   +7 more
europepmc   +1 more source

Thank You to Our 2025 Peer Reviewers

Geophysical Research Letters, Volume 53, Issue 6, 28 March 2026.
Kristopher Karnauskas, Anantha Aiyyer, Suzana Camargo, Fabio Capitanio, Peter Chi, Sloan Coats, Sylvia Dee, Christine Dow, Sarah Feakins, Robinson Fulweiler, Valier Galy, Neil Ganju, Alessandra Giannini, Yu Gu, Jianping Guo, Christian Huber, Valeriy Ivanov, Gregory Johnson, Monika Korte, Sujay Kumar, Soléne Lejosne, Kevin Lewis, Huixin Liu, Gudrun Magnusdottir, Mathieu Morlighem, Yuichi Otsuka, Paola Passalacqua, Christina Patricola‐DiRosario, Germán Prieto, Bo Qiu, Lynn Russell, Kanako Seki, Hui Su, Daoyuan Sun, Hari Viswanathan, Guiling Wang, Kaicun Wang, Angelicque White, Quentin Williams, Lei Zhang, Zhaoru Zhang   +40 more
wiley   +1 more source

Spinal Anesthesia in a Respiratory-Compromised Patient With Fabry Disease Undergoing Umbilical Hernia Repair: A Case Report. [PDF]

Cureus
Mavridou P, Exarchos C, Panagiotou P, Kitsakou P, Koutsi CA.   +4 more
europepmc   +1 more source

Gastrointestinal symptoms in adults with Fabry disease and their associations with physical and mental health. [PDF]

BMC Gastroenterol
Weedon-Fekjær MS, Pihlstrøm HK, Weedon-Fekjær H, Berentsen B, Hatlebakk JG, Bjerkely B, Solberg OK, Heimdal KR, Ørstavik K, Jenssen TG, Sigurdardottir S.   +10 more
europepmc   +1 more source

Angiokeratoma corporis diffusum Fabry [PDF]

Dermatology, 1968
openaire   +2 more sources

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