Concepedia

C. Ortez

CO

Statistics

Publications

58

Citations

2.8K

H-Index

28

Active since

2013

Affiliations

Hospital Sant Joan de Déu Barcelona(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Universitat de Barcelona

Institut de Recerca Sant Joan de Déu

C. Ortez is an author at Hospital Sant Joan de Déu Barcelona specializing in life sciences, genetics, and genetic disorders.

ORCID

Publications per year

2013–2024

58

Publications

58

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 249 citations · Full text

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 236 citations · Full text

, , +12

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

Raquel Montero, Dèlia Yubero, Joan Villarroya et al. · PLoS ONE · 2016 · 176 citations · Full text

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DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

Jonàs Juan‐Mateu, Lidia González‐Quereda, Maria José Rodríguez et al. · PLoS ONE · 2015 · 147 citations · Full text

, , +17

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

Susana G. Kalko, Sonia Paco, Cristina Jou et al. · BMC Genomics · 2014 · 126 citations · Full text

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1–5 of 58