MARÍA TERESA
GARCÍA SILVA
Investigadora hasta 2019
Hospital Universitario Virgen del Rocío
Sevilla, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario Virgen del Rocío (11)
2021
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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
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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
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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
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Scientific Reports, Vol. 9, Núm. 1
2018
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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
2017
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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Scientific Reports, Vol. 7, Núm. 1
2016
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Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso
Medicina Clinica, Vol. 147, Núm. 11, pp. 506.e1-506.e7
2010
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Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: A case series
Molecular Genetics and Metabolism, Vol. 99, Núm. 4, pp. 358-366
1998
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Medium-chain acyl-CoA dehydrogenase deficiency in Spain
Journal of Inherited Metabolic Disease, Vol. 21, Núm. 6, pp. 693-694
1989
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Biotinidase deficiency: a case presentation
International Pediatrics, Vol. 4, Núm. 3, pp. 285-288