Pompe disease

No retained variant associations.

1. 2024Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.Frontiers in genetics1 mentions
2. 2023Population pharmacokinetic modeling and dosing simulation of avalglucosidase alfa for selecting alternative dosing regimen in pediatric patients with late-onset pompe disease.Journal of pharmacokinetics and pharmacodynamics1 mentions
3. 2023Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.Orphanet journal of rare diseases1 mentions
4. 2023Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.Orphanet journal of rare diseases1 mentions
5. 2022A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting.Journal of neuromuscular diseases1 mentions
6. 2022Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report.Cureus1 mentions
7. 2022Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.Orphanet journal of rare diseases1 mentions
8. 2018The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.Molecular genetics and metabolism reports1 mentions
9. 2017The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.Journal of human genetics1 mentions
10. 2015Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.BMC neurology1 mentions
11. 2014Pompe disease: literature review and case series.Neurologic clinics1 mentions