Associated Papers
B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.
Staretz-Chacham O et al.
Clinical Genetics, 2020
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
van den Boogert MAW et al.
Journal of Inherited Metabolic Disease, 2020
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.
Guillard M et al.
The Journal of Pediatrics, 2011
Select a paper to view details