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A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review.
Manoochehri J, Kamal N, Khamirani HJ, Zoghi S, Haghighi MF, Goodarzi HR, Bagher Tabei SM. Manoochehri J, et al. Eur J Med Genet. 2022 Aug;65(8):104535. doi: 10.1016/j.ejmg.2022.104535. Epub 2022 Jun 16. Eur J Med Genet. 2022. PMID: 35718084 Review.
Pathogenic variants in FCSK cause Congenital Disorder of Glycosylation with Defective Fucosylation-2 (FCSK-CDG; MIM: 618,324). ...The proband, a four-and-a-half year old Iranian male born to consanguineous parents, manifested Intellectual disabi …
Pathogenic variants in FCSK cause Congenital Disorder of Glycosylation with Defective Fucosylation-2 (FCS …
Human deficiencies of fucosylation and sialylation affecting selectin ligands.
Lühn K, Wild MK. Lühn K, et al. Semin Immunopathol. 2012 May;34(3):383-99. doi: 10.1007/s00281-012-0304-1. Epub 2012 Mar 31. Semin Immunopathol. 2012. PMID: 22461019 Review.
With this in mind, it should be expected that individuals with deficient fucosylation or sialylation show immunodeficiency. However, as this review shows, the picture appears to be more complex and more interesting. Although there are only few patients with such glycosy
With this in mind, it should be expected that individuals with deficient fucosylation or sialylation show immunodeficiency. However, …
Fucose: biosynthesis and biological function in mammals.
Becker DJ, Lowe JB. Becker DJ, et al. Glycobiology. 2003 Jul;13(7):41R-53R. doi: 10.1093/glycob/cwg054. Epub 2003 Mar 19. Glycobiology. 2003. PMID: 12651883 Review.
Fucose deficiency is accompanied by a complex set of phenotypes both in humans with leukocyte adhesion deficiency type II (LAD II; also known as congenital disorder of glycosylation type IIc) and in a recently generated strain of mice with a conditional de
Fucose deficiency is accompanied by a complex set of phenotypes both in humans with leukocyte adhesion deficiency type II (LAD II; also know …