Publications dans lesquelles il/elle collabore avec M. T. García Silva (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
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
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