Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing

  1. Delarosa-Rodríguez, R.
  2. Santotoribio, J.D.
  3. Paula, H.-A.
  4. González-Meneses, A.
  5. García-Morillo, S.
  6. Jiménez-Arriscado, P.
  7. Guerrero, J.M.
  8. Macher, H.C.
Aldizkaria:
Clinical Genetics

ISSN: 1399-0004 0009-9163

Argitalpen urtea: 2021

Alea: 99

Zenbakia: 6

Orrialdeak: 761-771

Mota: Artikulua

DOI: 10.1111/CGE.13936 GOOGLE SCHOLAR