Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation

TMEM199 deficiency was recently shown in four patients to cause liver disease with steatosis, elevated serum transaminases, cholesterol and alkaline phosphatase and abnormal protein glycosylation. There is no inf...

Source: Orphanet Journal of Rare Diseases - January 10, 2018 Category: Internal Medicine Authors: Pietro Vajro, Katarzyna Zielinska, Bobby G. Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D ’Acunto, Hudson H. Freeze and Erik A. Eklund Tags: Research Source Type: research