Hanna Mandel
Western Galilee Hospital(IL)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Lysosomal Storage Disorders Research, Peroxisome Proliferator-Activated Receptors, RNA modifications and cancer
Most-Cited Works
- → Recombinant human acid α-glucosidase(2006)762 cited
- → Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy(2001)615 cited
- → The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA(2001)583 cited
- → A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease(2006)580 cited
- → Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision(2019)449 cited
- → Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants(2009)375 cited
- → Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome