Browsing by Author "del Toro Riera, Mireia"
Now showing items 1-8 of 8
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Biomarkers in Fabry Disease: Implications for Clinical Diagnosis and Follow-up
Carnicer Cáceres, Clara; Arranz Amo, José Antonio; Cea Arestín, Cristina; Camprodon Gomez, Maria; Moreno Martinez, David; Lucas del Pozo, Sara; Moltó Abad, Marc Miquel; Tigri-Santiña, Ariadna; Agraz Pamplona, Irene; Hernández Vara, Jorge; Armengol Bellapart, Mar; del Toro Riera, Mireia; Pintos Morell, Guillem; Rodríguez Palomares, Jose Fernando (MDPI, 2021-04-13) -
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey
Stepien, Karolina M.; Kieć-Wilk, Beata; Lampe, Christina; Tangeraas, Trine; Cefalo, Graziella; Belmatoug, Nadia; del Toro Riera, Mireia (Frontiers Media, 2021-02) -
Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art
de Castro, María José; del Toro Riera, Mireia; Giugliani, Roberto; Couce, Maria Luz (MDPI, 2021-09) -
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
Pajares Garcia, Sonia; Arranz Amo, José Antonio; Ormazabal, Aida; del Toro Riera, Mireia; García‑Cazorla, Ángeles; Navarro‑Sastre, Aleix; Carnicer Cáceres, Clara (BMC, 2021-04-30) -
Leigh syndrome associated with TRMU gene mutations
Sala Coromina, Julia; Dougherty-de Miguel, Lucia; de las Heras, Javier; Lasa Aranzasti, Amaia; García Arumí, Elena; Carreño Gago, Lidia; Arranz Amo, José Antonio; Carnicer Cáceres, Clara; Sánchez-Montáñez García-Carpintero, Ángel; del Toro Riera, Mireia (Elsevier, 2021-03) -
Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives
Tumiene, Birute; del Toro Riera, Mireia; Grikiniene, Jurgita; Samaitienė, Rūta; Praninskiene, Ruta; Monavari, Ahmad Ardeshir; Sykut-Cegielska, Jolanta (Dove Press, 2022-03-25) -
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Martín-Hernández, Elena; Quijada‑Fraile, Pilar; Meavilla Olivas, Silvia; Sánchez-Pintos, Paula; de las Heras, Javier; Dougherty de Miguel, Lucy; Camprodon Gomez, Maria; del Toro Riera, Mireia; Correcher, Patricia (MDPI, 2022-08-28) -
The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Rodrigues, Daniel; de Castro, María José; Crujeiras, Pablo; Duat Rodriguez, Anna; Marco Hernández, Ana Victoria; del Toro Riera, Mireia; Couce, Maria Luz; Colón, Cristóbal (Frontiers Media, 2022-03-29)