Visualitza per autor "Arranz Amo, José Antonio"
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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) -
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
Martín Nalda, Andrea; Rivière, Jacques; Catala-Besa, Mireia; García Prat, Marina; Parra Martínez, Alba; Colobran Oriol, Roger; Alonso Garcia, Laura; Arranz Amo, José Antonio; Soler Palacín, Pere; Martínez Gallo, Mónica (MDPI, 2021-12) -
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) -
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings
Silvera-Ruiz, Silene M.; Arranz Amo, José Antonio; Häberle, Johannes; Angaroni, Celia J.; Bezard, Miriam; Guelbert, Norberto (Springer Nature, 2019-08-19)