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18 p, 2.3 MB Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up / Carnicer-Cáceres, Clara (Hospital Universitari Vall d'Hebron) ; Arranz-Amo, Jose Antonio (Hospital Universitari Vall d'Hebron) ; Cea-Arestin, Cristina (Hospital Universitari Vall d'Hebron) ; Camprodon-Gomez, Maria (Hospital Universitari Vall d'Hebron) ; Moreno-Martinez, David (Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London WC1E 6BT, UK) ; Lucas-Del-Pozo, Sara (UCL Institute of Neurology (Regne Unit)) ; Moltó Abad, Marc (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ; Tigri-Santiña, Ariadna (Hospital Universitari Vall d'Hebron) ; Agraz Pamplona, Irene (Hospital Universitari Vall d'Hebron) ; Rodriguez-Palomares, Jose F.. (Hospital Universitari Vall d'Hebron) ; Hernández-Vara, Jorge (Hospital Universitari Vall d'Hebron) ; Armengol-Bellapart, Mar (Hospital Universitari Vall d'Hebron) ; Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ; Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity in the lysosome due to mutations in the GLA gene, resulting in gradual accumulation of globotriaosylceramide and other derivatives in different tissues. [...]
2021 - 10.3390/jcm10081664
Journal of clinical medicine, Vol. 10 (april 2021)  
Detailed record - Creative Commons

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