MARÍA TERESA
GARCÍA SILVA
Investigadora hasta 2019
![Foto de MARÍA TERESA](/img/nophoto.png)
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Hospital Virgen de la Arrixaca
Murcia, EspañaPublicaciones en colaboración con investigadores/as de Hospital Virgen de la Arrixaca (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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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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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
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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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
2016
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Clinical and genetic characterization of congenital hyperinsulinism in Spain
European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726
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
2008
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Déficit del cofactor molibdeno como causa de encefalopatía epiléptica precoz
Anales de Pediatria
1998
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Clinical heterogeneity associated with mitochondrial DNA depletion in muscle
Neuromuscular Disorders, Vol. 8, Núm. 8, pp. 568-573