Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants
- Hernández-Arévalo, P.
- Santotoribio, J.D.
- Delarosa-Rodríguez, R.
- González-Meneses, A.
- García-Morillo, S.
- Jiménez-Arriscado, P.
- Guerrero, J.M.
- Macher, H.C.
Zeitschrift:
Orphanet Journal of Rare Diseases
ISSN: 1750-1172
Datum der Publikation: 2021
Ausgabe: 16
Nummer: 1
Art: Artikel