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The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant.

Paprocka J, Jezela-Stanek A, Boguszewicz Ł, Sokół M, Lipiński P, Jamroz E, Emich-Widera E, Tylki-Szymańska A. Paprocka J, et al. Children (Basel). 2021 Mar 23;8(3):251. doi: 10.3390/children8030251. Children (Basel). 2021. PMID: 33807002 Free PMC article.

Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies.

Chong M, Yoon G, Susan-Resiga D, Chamberland A, Cheillan D, Paré G, Seidah NG. Chong M, et al. J Med Genet. 2020 Jan;57(1):11-17. doi: 10.1136/jmedgenet-2019-106102. Epub 2019 Aug 7. J Med Genet. 2020. PMID: 31391289

ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.

Galama WH, Verhaagen-van den Akker SLJ, Lefeber DJ, Feenstra I, Verrips A. Galama WH, et al. JIMD Rep. 2018;40:11-16. doi: 10.1007/8904_2017_53. Epub 2017 Sep 9. JIMD Rep. 2018. PMID: 28887793 Free PMC article.

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.

Gadomski TE, Bolton M, Alfadhel M, Dvorak C, Ogunsakin OA, Nelson SL, Morava E. Gadomski TE, et al. Am J Med Genet A. 2017 Oct;173(10):2772-2775. doi: 10.1002/ajmg.a.38377. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777499

Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.

den Hollander B, Brands MM, de Boer L, Haaxma CA, Lengyel A, van Essen P, Peters G, Kwast HJT, Klein WM, Coene KLM, Lefeber DJ, van Karnebeek CDM. den Hollander B, et al. J Inherit Metab Dis. 2023 Sep;46(5):956-971. doi: 10.1002/jimd.12643. Epub 2023 Jul 8. J Inherit Metab Dis. 2023. PMID: 37340906

Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.

Himmelreich N, Kikul F, Zdrazilova L, Honzik T, Hecker A, Poschet G, Lüchtenborg C, Brügger B, Strahl S, Bürger F, Okun JG, Hansikova H, Thiel C. Himmelreich N, et al. Mol Genet Metab. 2023 Jul;139(3):107610. doi: 10.1016/j.ymgme.2023.107610. Epub 2023 May 16. Mol Genet Metab. 2023. PMID: 37245379

A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.

Xue Y, Zhao Y, Wu B, Shu J, Yan D, Li D, Yu X, Cai C. Xue Y, et al. Mol Genet Genomic Med. 2023 Aug;11(8):e2197. doi: 10.1002/mgg3.2197. Epub 2023 May 19. Mol Genet Genomic Med. 2023. PMID: 37204045 Free PMC article. Review.

Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.

Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E. Tahata S, et al. Mol Genet Metab. 2023 Apr;138(4):107559. doi: 10.1016/j.ymgme.2023.107559. Epub 2023 Mar 17. Mol Genet Metab. 2023. PMID: 36965289

ALG11-CDG: novel variant and review of the literature.

Erdal AE, Ceylan AC, Gücüyener K, Öktem RM, Kıreker Köylü O, Kasapkara ÇS. Erdal AE, et al. J Pediatr Endocrinol Metab. 2023 Feb 28;36(4):409-413. doi: 10.1515/jpem-2022-0480. Print 2023 Apr 25. J Pediatr Endocrinol Metab. 2023. PMID: 36843332 Review.

Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.

Yu F, Lin L, Sun J, Pan J, Liao Y, Pan Y, Bai G, Ma L, Mao J, Hu L. Yu F, et al. Oxid Med Cell Longev. 2023 Jan 25;2023:5964723. doi: 10.1155/2023/5964723. eCollection 2023. Oxid Med Cell Longev. 2023. PMID: 36743691 Free PMC article.

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