Concepedia

María Jesús Ecay

MJ

4

Publications

152

Citations

4

H-Index

2011

Active since

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Hospital Sant Joan de Déu Barcelona

Universidad Autónoma de Madrid

Centro de Biología Molecular Severo Ochoa

Hospital Universitario Ramón y Cajal

María Jesús Ecay is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, clinical genetic disorders, and congenital disorders.

Top concepts

Publications per year

2011–2019

4

Publications

4

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

Belén Pérez, Celia Medrano, María Jesús Ecay et al. · Journal of Inherited Metabolic Disease · 2012 · 56 citations

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

Celia Pérez‐Cerdá, M. Girós, Mercedes Serrano et al. · The Journal of Pediatrics · 2017 · 40 citations

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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 et al. · Clinical Genetics · 2019 · 38 citations

The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations

Belén Pérez, P. Briones, Dulce Quelhas et al. · JIMD Reports · 2011 · 18 citations · Full text

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