MARÍA TERESA
GARCÍA SILVA
Ikertzailea 2019-(e)ra arte
Hospital Ramón y Cajal
Madrid, EspañaHospital Ramón y Cajal -ko ikertzaileekin lankidetzan egindako argitalpenak (12)
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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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
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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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
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
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
2012
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Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España
Anales de Pediatria, Vol. 76, Núm. 3, pp. 133-139
2009
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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
2004
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Congenital disorder of glycosylation (CDG) type Ie. A new patient
Journal of Inherited Metabolic Disease, Vol. 27, Núm. 5, pp. 591-600