JOSE DIEGO
SANTOTORIBIO CAMACHO
Researcher in the period 2017-2019
José-Salvador
García-Morillo
Publications by the researcher in collaboration with José-Salvador García-Morillo (2)
2021
-
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
-
Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene
Clinical Chemistry and Laboratory Medicine, Vol. 58, Núm. 12, pp. 2017-2024