Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study - Cerón‐Rodríguez - 2022 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Brain Development in Infantile-Onset Pompe Disease Treated by Enzyme Replacement Therapy | Pediatric Research
Health and economic outcomes of newborn screening for infantile-onset Pompe disease | medRxiv
Figure 2 from Muscle biopsy in Pompe disease. | Semantic Scholar
IJMS | Free Full-Text | From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease
Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease: Molecular Therapy Methods & Clinical Development
India's First Pompe Disease Patient Passes Away - PWOnlyIAS
CardioAcademic - Heart failure in cardiomyopathies: a... | Facebook
When Should We Start Enzyme Replacement Therapy for Infantile Pompe Disease With Severe Cardiomyopathy? | Revista Española de Cardiología
CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease | Scientific Reports
Pattern and prognostic value of cardiac involvement in patients with late-onset pompe disease: a comprehensive cardiovascular magnetic resonance approach | Journal of Cardiovascular Magnetic Resonance | Full Text
Glycogen storage disease type II (NORD): Video | Osmosis
Frontiers | Induced pluripotent stem cell for modeling Pompe disease
Frontiers | Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus
Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase - ScienceDirect