Rare diseases (RDs) collectively affect millions of people in the European Union, and advances in early diagnosis, neonatal screening, and treatment mean that increasing numbers of patients with childhood-onset RDs now reach adulthood, often with chronic sequelae and complex, long-term care needs. Transition from pedia...
Tatiana Pire-García, Giorgina Salgueiro-Origlia, S. Carrasco-Molina et al.· Journal of Personalized Medi...· 0 citations
The prevailing concept of Fabry disease as a condition affecting only males, being females considered merely carriers has been superseded by a more nuanced understanding of the condition as a highly complex multisystemic disorder. Contemporary evidence contradicts the prevailing paradigm that heterozygous women are asy...
Olaya Huergo-Fernández, Sofía Méndez Blanco, L. Ordieres-Ortega et al.· Medicina clínica (Ed. impres...· 0 citations
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