Concepedia

Ana Fernández‐Marmiesse

AF

24

Publications

861

Citations

19

H-Index

2000

Active since

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Instituto de Investigación Sanitaria de Santiago

Complejo Hospitalario Universitario de Santiago

Universidade de Santiago de Compostela

Hospital Sant Joan de Déu Barcelona

Ana Fernández‐Marmiesse is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

2000–2020

24

Publications

24

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

Ana Fernández‐Marmiesse, Marcos Morey, Mercè Pineda et al. · Orphanet Journal of Rare Diseases · 2014 · 72 citations · Full text

Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria

Luis Aldámiz‐Echevarría, Marta Llarena, María A. Bueno et al. · Journal of Human Genetics · 2016 · 69 citations · Full text

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Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome

Cristina Guillín‐Amarelle, Sofía Sánchez‐Iglesias, Ana Castro-Pais et al. · Endocrine · 2016 · 66 citations · Full text

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Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Ana Fernández‐Marmiesse, Iria Roca, Felícitas Díaz-Flores et al. · Frontiers in Neuroscience · 2019 · 60 citations · Full text

Vitamin and mineral status in patients with hyperphenylalaninemia

Vanesa Crujeiras Martínez, Luis Aldámiz‐Echevarría, Jaime Dalmau et al. · Molecular Genetics and Metabolism · 2015 · 58 citations · Full text

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