Disease: Congenital disorder of glycosylation type 1D
- A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenital muscular dystrophy
- Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient
- Journey into muscular dystrophies caused by abnormal glycosylation
- Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage
- Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG