Hilary Vallance
BC Children's Hospital(CA)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Neonatal Health and Biochemistry, Folate and B Vitamins Research, Mitochondrial Function and Pathology, Lysosomal Storage Disorders Research
Most-Cited Works
- → Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification(2003)598 cited
- → Exome Sequencing and the Management of Neurometabolic Disorders(2016)279 cited
- → IDH2 Mutations in Patients with d -2-Hydroxyglutaric Aciduria(2010)192 cited
- → Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase(2008)167 cited
- → Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy(2015)122 cited
- → Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood(2014)107 cited