Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II.

@article{Fukuda1990IncompleteSO,
  title={Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II.},
  author={M. N. Fukuda and K A Masri and Anne Dell and Lucio Luzzatto and Kelley W Moremen},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1990},
  volume={87 19},
  pages={7443-7}
}
Congenital dyserythropoietic anemia type II, or hereditary erythroblastic multinuclearity with a positive acidified-serum-lysis test (HEMPAS), is a genetic anemia in humans inherited by an autosomally recessive mode. The enzyme defect in most HEMPAS patients has previously been proposed as a lowered activity of N-acetylglucosaminyltransferase II, resulting in a lack of polylactosamine on proteins and leading to the accumulation of polylactosaminyl lipids. A recent HEMPAS case, G.C., has now… CONTINUE READING
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