Browsing by Author "Mugnaini, Julia"
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Estudio de las bases moleculares de la Fibrosis Quística y la enfermedad de Sandhoff : Ensayos IN VITRO en modelos de mutaciones intrónicas del gen hexb
Mugnaini, Julia (2018)During the period from 1970-2017, 151 patients were diagnosed with cystic fibrosis and 110 patients with Sandhoff disease in CEMECO, making these diseases the two most diagnosed according to the local registry of patients. ... -
Population-Based Study of New Mutations Causing Sandhoff Disease in Argentina
Mugnaini, Julia; Dodelson de Kremer, Raquel; Oller Ramírez, Ana María; Azar, Nydia Beatriz; Dardis, Andrea; Becerra, Adriana; Zampieri, S.; Guelbert, Norberto (Sociedad Americana de errores innatos del metabolismo y pesquisa neonatal, 2013)Sandhoff Disease (SD) is a lysosomal storage disorder caused by mutations in the HEXB gene. A high incidence of SD has been described in an Argentine region called ‘‘Valle de Traslasierra.’’ Mutations c.445þ1G>A and ...