Associated Papers
Progress in research on DDOST dysregulation in related diseases.
Sun H et al.
Glycoconjugate Journal, 2025
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.
Elsharkawi I et al.
Journal of Inherited Metabolic Disease, 2023
The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.
Pi S et al.
Journal of Human Genetics, 2022
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
Jones MA et al.
American Journal of Human Genetics, 2012
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