Area of research
Rheumatology · Clinical Biochemistry
Research interest
Research interests include Biology, Genetics, Medicine, Vitamin B12, Pediatrics, and Mutation.
Differential utilization of vitamin B12-dependent and independent pathways for propionate metabolism across human cells
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy
Sacrificial Cobalt–Carbon Bond Homolysis in Coenzyme B<sub>12</sub> as a Cofactor Conservation Strategy
Clinical presentation and outcome in a series of 88 patients with the cblC defect
Severe Methylenetetrahydrofolate Reductase Deficiency
Update on transcobalamin deficiency: clinical presentation, treatment and outcome
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome