TY  - JOUR
AU  - Blanco, Rocío
AU  - Rico, Yolanda
AU  - Hermida-Ameijeiras, Álvaro
AU  - Abdullah, Israa Mahmoud Sanad
AU  - Lau, Kolja
AU  - Álvarez-Rubio, Jorge
AU  - Fortuny Frau, Elena
AU  - Martínez-Monzonís, Amparo
AU  - Nowak, Albina
AU  - Nordbeck, Peter
AU  - Veras Burgos, Carlos Miguel
AU  - Pons Llinares, Jaume Ausias
AU  - Rossi, Emiliano
AU  - Caimi-Martinez, Fiama
AU  - Bosch-Rovira, Teresa
AU  - Alamar-Cervera, Marta
AU  - Ruiz-Pizarro, Virginia
AU  - Torres-Juan, Laura
AU  - Heine-Suñer, Damián
AU  - Ripoll Vera, Tomás
PY  - 2024
DO  - 10.3390/ijms25084299
UR  - https://hdl.handle.net/20.500.13003/20336
T2  - International journal of molecular sciences
AB  - The p.Arg301Gln variant in the α -galactosidase A gene (GLA) has been poorly described in the literature. The few reports show controversial information, with both classical and nonclassical Anderson-Fabry Disease (AFD) presentation patterns. The aim...
LA  - eng
PB  - MDPI
KW  - Penetrance
KW  - Phenotype
KW  - Male
KW  - Aged
KW  - Female
KW  - Adult
KW  - Humans
KW  - alpha-Galactosidase
KW  - Fabry Disease
KW  - Middle Aged
KW  - Retrospective Studies
TI  - Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease
TY  - research article
VL  - 25
ER  -