Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
三例未报告的 TMEM199-CDG 病例，这是一种罕见的遗传性肝病，伴有糖基化异常
期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-017-0757-3
Pietro Vajro, Katarzyna Zielinska, Bobby G Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D'Acunto, Hudson H Freeze, Erik A Eklund
