MARÍA TERESA
GARCÍA SILVA
Investigadora hasta 2019
Radboud University Nijmegen Medical Centre
Nimega, HolandaPublicaciones en colaboración con investigadores/as de Radboud University Nijmegen Medical Centre (5)
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
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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Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
Annals of Neurology, Vol. 82, Núm. 6, pp. 1004-1015
2003
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Apolipoprotein C-III Isofocusing in the Diagnosis of Genetic Defects in O-Glycan Biosynthesis
Clinical Chemistry, Vol. 49, Núm. 11, pp. 1839-1845