María Teresa García‐Silva

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Valeria Tiranti, Pio D’Adamo, Egill Briem et al. · The American Journal of Human Genetics · 2004 · 201 citations · Full text

Neurodegenerative Diseases, Mitochondrial Function, Genetic Disorder +11

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 et al. · Human Molecular Genetics · 2007 · 122 citations · Full text

Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

Mercedes Serrano, María Teresa García‐Silva, Elena Martín‐Hernández et al. · Mitochondrion · 2010 · 59 citations

Kearns-sayre Syndrome, Mendelian Disorder, Neurological Disorder +9

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 et al. · Pediatric Research · 2005 · 54 citations · Full text

Mitochondrial Disease, Mitochondrial Biogenesis, Mitochondrial Function +12

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

Elena Martín‐Hernández, Luis Aldámiz‐Echevarría, E. Castejón-Ponce et al. · Orphanet Journal of Rare Diseases · 2014 · 49 citations · Full text