MARÍA TERESA
GARCÍA SILVA
Chercheuse jusqu {1}
Luis
Aldamiz-Echevarria Azuara
Publications dans lesquelles il/elle collabore avec Luis Aldamiz-Echevarria Azuara (3)
2020
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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
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