JOSE DIEGO
SANTOTORIBIO CAMACHO
Ikertzailea 2017-2019 tartean
José-Salvador
García-Morillo
José-Salvador García-Morillo-rekin lankidetzan egindako argitalpenak (2)
2021
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Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing
Clinical Genetics, Vol. 99, Núm. 6, pp. 761-771
2020
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Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene
Clinical Chemistry and Laboratory Medicine, Vol. 58, Núm. 12, pp. 2017-2024