Celia Medrano

Celia Medrano

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Celia Medrano

Celia Medrano

Publications by authors named "Celia Medrano"

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DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

PLoS One 2017 29;12(6):e0179456. Epub 2017 Jun 29.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0179456PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5491010PMC
September 2017

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

J Pediatr 2017 04 27;183:170-177.e1. Epub 2017 Jan 27.

Center of Molecular Biology-Severo Ochoa, University Autonomous of Madrid-Spanish National Research Council, La Paz Institute for Health Research, Center for Biomedical Research on Rare Diseases, Madrid, Spain.

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http://dx.doi.org/10.1016/j.jpeds.2016.12.060DOI Listing
April 2017

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

Genet Med 2016 10 25;18(10):1037-43. Epub 2016 Feb 25.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.

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http://www.nature.com/articles/gim2015217
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http://dx.doi.org/10.1038/gim.2015.217DOI Listing
October 2016

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.

J Inherit Metab Dis 2013 May 14;36(3):535-42. Epub 2012 Sep 14.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIPaz, Universidad Autónoma Madrid, Madrid, Spain.

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http://dx.doi.org/10.1007/s10545-012-9525-7DOI Listing
May 2013