MARÍA TERESA
GARCÍA SILVA
Investigadora hasta 2019
Complexo Hospitalario Universitario de Santiago
Santiago de Compostela, EspañaPublicaciones en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (8)
2021
-
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2019
-
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626
-
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352
-
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562
2018
-
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Journal of Inherited Metabolic Disease
2012
-
Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España
Anales de Pediatria, Vol. 76, Núm. 3, pp. 133-139
2011
-
Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias
Medicina Clinica, Vol. 137, Núm. 11, pp. 500-503
2009
-
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)
Human Mutation, Vol. 30, Núm. 11, pp. 1558-1566