Julian Raiman
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Glycogen Storage Diseases and Myoclonus, Mitochondrial Function and Pathology, Trypanosoma species research and implications
Most-Cited Works
- → Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine(2016)375 cited
- → Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity(2013)185 cited
- → International guidelines for the management and treatment of Morquio A syndrome(2014)136 cited
- → An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)(2010)125 cited
- → Glycogen storage disease type IX: High variability in clinical phenotype(2007)123 cited
- → The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada(2014)120 cited
- → Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants(2015)116 cited
- → Defining mitochondrial protein functions through deep multiomic profiling(2022)114 cited
- → Clinical Features of Lysosomal Acid Lipase Deficiency(2015)113 cited
- → Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT(2013)110 cited