Publications by authors named "Celia Medrano"

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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Celia Medrano, Ana Vega, Rosa Navarrete, M Jesús Ecay, Rocío Calvo

Clin Genet· May 2019

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DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.
Patricia Yuste-Checa, Ana I Vega, Cristina Martín-Higueras, Celia Medrano, Alejandra Gámez

PLoS One· September 2017

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A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
Celia Pérez-Cerdá, Ma Luisa Girós, Mercedes Serrano, M Jesús Ecay, Laura Gort, Celia Medrano

J Pediatr· April 2017

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Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
Ana I Vega, Celia Medrano, Rosa Navarrete, Lourdes R Desviat, Begoña Merinero

Genet Med· October 2016

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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, Sharita Timal, Janine Reunert, Celia Medrano

Am J Hum Genet· February 2016

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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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Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
Luisa Arrabal, Libertad Teresa, Rocío Sánchez-Alcudia, Margarita Castro, Celia Medrano

Neurogenetics· August 2011

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