Concepedia

Author

María Jesús Ecay

Centre for Biomedical Network Research on Rare Diseases

Also Known As

M. J. Ecay, M. Jesús Ecay, M.J. Ecay, Maria Jesus Ecay, María Jesús Ecay

7

Publications

164

Citations

5

H-Index

8

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare DiseasesHospital Sant Joan de Déu BarcelonaUniversidad Autónoma de MadridCentro de Biología Molecular Severo OchoaHospital Universitario Ramón y Cajal
MJ

About

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

#ConceptH-IndexPublicationsCitations

1

Medicine

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2

Clinical Genetic Disorders

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3

Clinical Genetics

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Genetic Epidemiology

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Genetics

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María Jesús Ecay

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4

Publications

152

Citations

4

H-Index

YearCitations

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,

Journal of Inherited Metabolic Disease

2012

56

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,

The Journal of Pediatrics

2017

40

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain

Celia Medrano, Ana Vega, Rosa Navarrete,

Clinical Genetics

2019

38

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

Belén Pérez, P. Briones, Dulce Quelhas,

JIMD Reports

2011

18

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