JOSE DIEGO
SANTOTORIBIO CAMACHO
Forscher in der Zeit 2017-2019
Hada C.
Macher
Publikationen, an denen er mitarbeitet Hada C. Macher (6)
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
-
Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
-
Neuronal ceroid lipofuscinosis and Bardet-Biedl syndrome in patient with retinitis pigmentosa
Anales de Pediatria, Vol. 95, Núm. 2, pp. 116-118
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
2019
-
Recomendaciones preanalíticas para la obtención y análisis de ADN circulante a partir de sangre periférica. Recomendación (2018)
Revista del laboratorio clínico, Vol. 12, Núm. 3, pp. 40-46
2015
-
Pleural fluid cell-free DNA in parapneumonic pleural effusion
Clinical Biochemistry, Vol. 48, Núm. 15, pp. 1003-1005