MARÍA TERESA
GARCÍA SILVA
Investigadora fins a 2019
Isidro
Vitoria Miñana
Publicacions en què col·labora amb Isidro Vitoria Miñana (3)
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
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
2014
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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Orphanet journal of rare diseases, Vol. 9, pp. 187