Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.10.021
Abstract: FUK encodes fucokinase, the only enzyme capable of converting L-fucose to fucose-1-phosphate, which will ultimately be used for synthesizing GDP-fucose, the donor substrate for all fucosyltransferases. Although it is essential for fucose salvage, this pathway… read more here.
Keywords: pathogenic variants; disorder; cause congenital; glycosylation ... See more keywords
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure.
Sign Up to like & getrecommendations! Published in 2017 at "Blood"
DOI: 10.1182/blood-2017-02-766881
Abstract: ![Figure][1] A 3-month-old boy presented with decreased appetite, fatigue, and a nosebleed. Initial workup revealed hemoglobin 2.6 g/dL (10.2-12.7), hematocrit 7.7% (30.9-37.9), mean corpuscular volume 104 fL (71.3-82.6), white blood cell count 4200/μL (240 absolute… read more here.
Keywords: infant pearson; syndrome rare; congenital sideroblastic; cause congenital ... See more keywords