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- 2018
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Mark
Dermatan sulfate epimerase 1 and dermatan 4-O-sulfotransferase 1 form complexes that generate long epimerized 4-O-sulfated blocks
(
- Contribution to journal › Article
-
Mark
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
(
- Contribution to journal › Article
- 2015
-
Mark
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article