Ramona Salvarinova
BC Children's Hospital(CA)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Glycogen Storage Diseases and Myoclonus
Most-Cited Works
- → Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society(2017)286 cited
- → Exome Sequencing and the Management of Neurometabolic Disorders(2016)279 cited
- → Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy(2017)126 cited
- → Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood(2014)107 cited
- → Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy(2019)99 cited
- → Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG(2020)77 cited
- → Atypical cerebral palsy: genomics analysis enables precision medicine(2018)59 cited
- → Recessive ITPA mutations cause an early infantile encephalopathy(2015)57 cited
- → Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients(2019)52 cited
- → Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management(2013)48 cited