- A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report
Meltem Bor et al, 2022, Journal of Pediatric Intensive Care CrossRef - A case series of infantile Pompe disease at the university college hospital Ibadan Nigeria
O.S. Folayan et al, 2022, Progress in Pediatric Cardiology CrossRef - Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
Zuhair Al-Hassnan et al, 2022, Orphanet Journal of Rare Diseases CrossRef - Infantile-onset Pompe disease with neonatal debut
Miriam Martínez et al, 2017, Medicine CrossRef - Lysosomal Storage Disorders
Haiying Meng, 2019, Self-Assessment Questions for Clinical Molecular Genetics CrossRef - Bir olgu nedeniyle: infantil Pompe hastalığı ve komplikasyonlar
Selim Dereci et al, 2018, Journal of Contemporary Medicine CrossRef - The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease
Jiaming Li et al, 2020, International Heart Journal CrossRef - Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports
Qi Feng et al, 2024, Medicine CrossRef - The emerging phenotype of late-onset Pompe disease: A systematic literature review
Justin Chan et al, 2017, Molecular Genetics and Metabolism CrossRef - Glycophagy: An emerging target in pathology
Hong Zhao et al, 2018, Clinica Chimica Acta CrossRef - Neuromuscular Disorders
Haiying Meng, 2019, Self-Assessment Questions for Clinical Molecular Genetics CrossRef