María Teresa García‐Silva

Author

Also Known As

Juan Jose Garcia-Peñas, Maria T. Garcia-Silva, Maria Teresa Garcia-Silva, Maria Teresa García-Silva, Maria Teresa García‐Silva, Maria-Teresa Garcia-Silva, María T García-Silva, María Teresa Garcia-Silva, María Teresa García-Silva, María Teresa García‐Silva

Publications

963

Citations

H-Index

Concepts

All Affiliations

Hospital Universitario 12 De Octubre Centre for Biomedical Network Research on Rare Diseases Centro de Investigación Biomédica en Red Instituto de Salud Carlos III Hospital Universitario Virgen del Rocío

About

María Teresa García‐Silva is an author at Hospital Universitario 12 De Octubre specializing in medicine, genetics, and inherited metabolic disease.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	523
2	Metabolism	2	2	82
3	Public Health	1	1	28
4	Biochemistry	1	1	54
5	Cell Biology	1	1	27

María Teresa García‐Silva

Publications

808

Citations

H-Index

Page 1

	Year	Citations
Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein Valeria Tiranti, Pio D’Adamo, Egill Briem, The American Journal of Human Genetics Neurodegenerative DiseasesMitochondrial FunctionGenetic DisorderMitochondrial Matrix ProteinGenetics	2004	201
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation François Foulquier, Dániel Ungár, Ellen Reynders, Human Molecular Genetics	2007	122
Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features Mercedes Serrano, María Teresa García‐Silva, Elena Martín‐Hernández, Mitochondrion Kearns-sayre SyndromeMendelian DisorderNeurological DisorderCerebrospinal FluidInherited Metabolic Disease	2010	59
2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease Celia Pérez‐Cerdá, Judit García‐Villoria, Rob Ofman, Pediatric Research Mitochondrial DiseaseMitochondrial BiogenesisMitochondrial FunctionBiochemistryGenetic Disorder	2005	54
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases Elena Martín‐Hernández, Luis Aldámiz‐Echevarría, E. Castejón-Ponce, Orphanet Journal of Rare Diseases	2014	49
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome Pilar Quijada‐Fraile, Mar O’Callaghan, Elena Martín‐Hernández, Orphanet Journal of Rare Diseases	2014	46
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy Elena Martín‐Hernández, María Elena Rodríguez‐García, Ana Camacho, Neurogenetics Mendelian DisorderNovel SyndromeOphthalmologyGenetic DisorderGenetics	2016	44
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria Frederic Tort, María Teresa García‐Silva, Xènia Ferrer-Cortés, Molecular Genetics and Metabolism New MutationSomatic Variant3-Methylglutaconic AciduriaGenetic DisorderMedicine	2013	39
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome Henry Rivera, Elena Martín‐Hernández, Aitor Delmiro, BMC Nephrology	2013	34
Whole-Exome Sequencing Identifies a Variant of the Mitochondrial<i>MT-ND1</i>Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome Aitor Delmiro, Henry Rivera, María Teresa García‐Silva, Human Mutation GeneticsWest SyndromeGenetic EpidemiologyPathologyWest Syndrome Evolving	2013	31

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