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10. ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings. Farolfi M; Cechova A; Ondruskova N; Zidkova J; Kousal B; Hansikova H; Honzik T; Liskova P BMC Ophthalmol; 2021 Jun; 21(1):249. PubMed ID: 34090370 [TBL] [Abstract][Full Text] [Related]
11. Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG. Daniel EJP; Edmondson AC; Argon Y; Alsharhan H; Lam C; Freeze HH; He M J Inherit Metab Dis; 2024 Jul; 47(4):766-777. PubMed ID: 38597022 [TBL] [Abstract][Full Text] [Related]
12. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant. de la Morena-Barrio ME; Sabater M; de la Morena-Barrio B; Ruhaak RL; Miñano A; Padilla J; Toderici M; Roldán V; Gimeno JR; Vicente V; Corral J Mol Genet Genomic Med; 2020 Aug; 8(8):e1304. PubMed ID: 32530140 [TBL] [Abstract][Full Text] [Related]
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14. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development. Mandel H; Cohen Kfir N; Fedida A; Shuster Biton E; Odeh M; Kalfon L; Ben-Harouch S; Fleischer Sheffer V; Hoffman Y; Goldberg Y; Dinwiddie A; Dumin E; Eran A; Apel-Sarid L; Tiosano D; Falik-Zaccai TC Clin Genet; 2020 Oct; 98(4):402-407. PubMed ID: 32683677 [TBL] [Abstract][Full Text] [Related]
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17. Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG). Li G; Xu Y; Hu X; Li N; Yao R; Yu T; Wang X; Guo W; Wang J Eur J Med Genet; 2019 Jan; 62(1):44-46. PubMed ID: 29709711 [TBL] [Abstract][Full Text] [Related]
18. Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature. Tahata S; Gunderson L; Lanpher B; Morava E Mol Genet Metab; 2019 Dec; 128(4):409-414. PubMed ID: 31481313 [TBL] [Abstract][Full Text] [Related]
19. Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG. van Tol W; Michelakakis H; Georgiadou E; van den Bergh P; Moraitou M; Papadimas GK; Papadopoulos C; Huijben K; Alsady M; Willemsen MA; Lefeber DJ J Inherit Metab Dis; 2019 Sep; 42(5):984-992. PubMed ID: 30931530 [TBL] [Abstract][Full Text] [Related]
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