Balasubramanian M et al. MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. Eur J Med Genet. 2019;62(2):109-114. PMID: 29908352.
Kasapkara CS et al. MAN1B1-CDG: novel patients and novel variant. J Pediatr Endocrinol Metab. 2021;34(9):1207-1209. PMID: 34162022.
Kemme L et al. Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG). JIMD Rep. 2021;60(1):42-55. PMID: 34258140.
Okamoto N et al. Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles. Cells. 2021;10(11):3117. PMID: 34831340.
Zhalsanova IZ et al. Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome. Int J Mol Sci. 2022;23(18):10606. PMID: 36142510.