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• Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.

  Thiel C, Schwarz M, Hasilik M, Grieben U, Hanefeld F, Lehle L, von Figura K, Körner C. Thiel C, et al. Biochem J. 2002 Oct 1;367(Pt 1):195-201. doi: 10.1042/BJ20020794. Biochem J. 2002. PMID: 12093361 Free PMC article.
• Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature.

  Gazit Y, Mory A, Etzioni A, Frydman M, Scheuerman O, Gershoni-Baruch R, Garty BZ. Gazit Y, et al. J Clin Immunol. 2010 Mar;30(2):308-13. doi: 10.1007/s10875-009-9354-0. Epub 2010 Jan 23. J Clin Immunol. 2010. PMID: 20099014 Review.
• Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

  Morava E, Wosik H, Kárteszi J, Guillard M, Adamowicz M, Sykut-Cegielska J, Hadzsiev K, Wevers RA, Lefeber DJ. Morava E, et al. J Inherit Metab Dis. 2008 Jun;31(3):450-6. doi: 10.1007/s10545-008-0822-0. Epub 2008 May 20. J Inherit Metab Dis. 2008. PMID: 18500572
• Development of immunoglobulin A nephropathy- like disease in beta-1,4-galactosyltransferase-I-deficient mice.

  Nishie T, Miyaishi O, Azuma H, Kameyama A, Naruse C, Hashimoto N, Yokoyama H, Narimatsu H, Wada T, Asano M. Nishie T, et al. Am J Pathol. 2007 Feb;170(2):447-56. doi: 10.2353/ajpath.2007.060559. Am J Pathol. 2007. PMID: 17255313 Free PMC article.
• Congenital disorders of glycosylation (CDG): state of the art in 2022.

  Francisco R, Brasil S, Poejo J, Jaeken J, Pascoal C, Videira PA, Dos Reis Ferreira V. Francisco R, et al. Orphanet J Rare Dis. 2023 Oct 19;18(1):329. doi: 10.1186/s13023-023-02879-z. Orphanet J Rare Dis. 2023. PMID: 37858231 Free PMC article. Review.