MARÍA TERESA
GARCÍA SILVA
Investigadora hasta 2019
Publicaciones (97) Publicaciones de MARÍA TERESA GARCÍA SILVA
2022
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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
JIMD Reports, Vol. 63, Núm. 2, pp. 146-161
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Genetic diagnosis of basal ganglia disease in childhood
Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752
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Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients
Nutrients, Vol. 14, Núm. 13
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
2020
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Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid
Revista espanola de salud publica, Vol. 94
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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
2019
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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
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Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology
Human Mutation, Vol. 40, Núm. 10, pp. 1700-1712
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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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Four years’ experience in the diagnosis of very long-chain acyl-coa dehydrogenase deficiency in infants detected in three spanish newborn screening centers
JIMD Reports (Springer), pp. 63-74
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Neuroradiological Features of Six Patients with Propionic Acidemia
Journal of Pediatric Neurology, Vol. 16, Núm. 6, pp. 390-396
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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
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Protocolo de diagnóstico y tratamiento de las enfermedades mitocondriales
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 181-204
2017
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Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye’s syndrome
Journal of Inherited Metabolic Disease, Vol. 40, Núm. 5, pp. 751-752
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Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) (J Inherit Metab Dis, 10.1007/s10545–017–0028-4)
Journal of Inherited Metabolic Disease
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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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Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization
Clinical Endocrinology, Vol. 86, Núm. 6, pp. 778-783
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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Journal of Inherited Metabolic Disease, Vol. 40, Núm. 5, pp. 709-713