CONGENITAL METABOLIC DISORDERS
Hospital Universitario de Donostia
San Sebastián, EspañaPublications in collaboration with researchers from Hospital Universitario de Donostia (2)
2024
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
2020
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Canavan gaixotasuna (aspartoazilasaren gabezia): Euskal Herriko lehen kasuaren eta Europako mutazio berri baten aurkezpena
Osagaiz: osasun-zientzien aldizkaria, Vol. 4, Núm. 2, pp. 71-78