MARÍA TERESA
GARCÍA SILVA
Investigadora hasta 2019
Hospital Clinic Barcelona
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Hospital Clinic Barcelona (9)
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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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Scientific Reports, Vol. 9, Núm. 1
2017
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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
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Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion, Vol. 30, pp. 51-58
2012
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Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: New insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature
British Journal of Dermatology, Vol. 166, Núm. 4, pp. 830-838
2010
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Functional splicing assay supporting that c.70+5G>A mutation in the MPV17 gene is disease causing
Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3
2009
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PDH E
1
β deficiency with novel mutations in two patients with Leigh syndrome
Journal of Inherited Metabolic Disease, Vol. 32, Núm. SUPPL. 1
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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