Associated Papers
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN et al.
Journal of Inherited Metabolic Disease, 2023
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Alsharhan H et al.
Journal of Inherited Metabolic Disease, 2021
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
Farolfi M et al.
Bmc Ophthalmology, 2021
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