Publications by authors named "Maria Jesus Ecay"

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Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay

Orphanet J Rare Dis· July 2018

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A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
Belén Pérez, Celia Medrano, Maria Jesus Ecay, Pedro Ruiz-Sala, Mercedes Martínez-Pardo

J Inherit Metab Dis· May 2013

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