Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

  1. Hernández-Arévalo, P.
  2. Santotoribio, J.D.
  3. Delarosa-Rodríguez, R.
  4. González-Meneses, A.
  5. García-Morillo, S.
  6. Jiménez-Arriscado, P.
  7. Guerrero, J.M.
  8. Macher, H.C.
Zeitschrift:
Orphanet Journal of Rare Diseases

ISSN: 1750-1172

Datum der Publikation: 2021

Ausgabe: 16

Nummer: 1

Art: Artikel

DOI: 10.1186/S13023-021-01864-8 GOOGLE SCHOLAR lock_openOpen Access editor