Rawda Sunbul

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group

Fatma Al Jasmi, Mohammed Al Jumah, Fatimah Alqarni et al. · BMC Neurology · 2015 · 42 citations · Full text

Life Sciences, Pathobiology, Pharmacotherapy +14

Lethal variants in humans: lessons learned from a large molecular autopsy cohort

Hanan E. Shamseldin, Lama AlAbdi, Sateesh Maddirevula et al. · Genome Medicine · 2021 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

Jumanah Alshenaifi, Nour Ewida, Shams Anazi et al. · Clinical Genetics · 2018 · 23 citations

Life Sciences, Genetics, Molecular Genetics +16

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges

Paul J. Benke, Ryan J. Hidalgo, Bruce H. Braffman et al. · Journal of Child Neurology · 2017 · 20 citations

Life Sciences, Genetics, Pediatrics +17