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Endocrinologia, Diabetes Y Nutricion|June 17, 2026
Corticotropin-secreting pheochromocytoma: A case reportPedro Iglesias, Juan González González, Emiliano González-Vioque, et al.
Nutrients|October 6, 2020
Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal DisorderMaría L Couce, Paula Sánchez-Pintos, Emiliano González-Vioque, et al.
Plos Genetics|April 13, 2011
Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Emiliano González-Vioque, Javier Torres-Torronteras, Antoni L Andreu, et al.
Drug Discovery Today|July 3, 2013
Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNAYolanda Cámara, Emiliano González-Vioque, Mauro Scarpelli, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
The pathogenicity scoring system for mitochondrial tRNA mutations revisitedEmiliano González-Vioque, Belén Bornstein, María Esther Gallardo, et al.
Human Molecular Genetics|December 24, 2013
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndromeYolanda Cámara, Emiliano González-Vioque, Mauro Scarpelli, et al.
Journal of Clinical Medicine|July 29, 2020
Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic DiseaseMaría José de Castro, Emiliano González-Vioque, Sofía Barbosa-Gouveia, et al.
Genes|September 5, 2020
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBLSofia Barbosa-Gouveia, Emiliano González-Vioque, Álvaro Hermida, et al.
Journal of Clinical Medicine|August 23, 2019
Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I DeficiencySofia Barbosa-Gouveia, Emiliano González-Vioque, Filipa Borges, et al.
The Journal of Biological Chemistry|March 1, 2008
Mitochondrial transcription factor B2 is essential for metabolic function in Drosophila melanogaster developmentCristina Adán, Yuichi Matsushima, Rosana Hernández-Sierra, et al.
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