Publications

Export 3 results:
Author Title [ Year(Asc)]
Filters: Author is Wang, Raymond Y  [Clear All Filters]
2020
Ng, B. G. et al. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis 43, 1333-1348 (2020).
2017
Simon, M. T. et al. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion 34, 84-90 (2017).
2016
Ng, B. G. et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat 37, 653-60 (2016).