TY  - GEN
AU  - Martínez,Miriam
AU  - Romero,Mar García
AU  - Guereta,Luis García
AU  - Cabrera,Marta
AU  - Regojo,Rita M
AU  - Albajara,Luis
AU  - Couce,Maria L
AU  - Pipaon,Miguel Saenz de
TI  - Infantile-onset Pompe disease with neonatal debut: A case report and literature review
SN  - 1536-5964
PY  - 2018///0214
KW  - Biopsy, Needle
KW  - Cardiomyopathy, Hypertrophic
KW  - etiology
KW  - Disease Progression
KW  - Fatal Outcome
KW  - Glycogen Storage Disease Type II
KW  - complications
KW  - Homozygote
KW  - Humans
KW  - Immunohistochemistry
KW  - Infant, Newborn
KW  - Infant, Newborn, Diseases
KW  - diagnosis
KW  - Male
KW  - Mutation
KW  - Rare Diseases
KW  - Risk Assessment
KW  - Severity of Illness Index
KW  - Ventricular Fibrillation
KW  - alpha-Glucosidases
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article; Review
UR  - https://doi.org/10.1097/MD.0000000000009186
ER  -