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

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

Abstract Background 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 information on the long-term outcome in this disorder. Results We here...

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Bibliographic Details
Main Authors: Pietro Vajro, Katarzyna Zielinska, Bobby G. Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D’Acunto, Hudson H. Freeze, Erik A. Eklund
Format: Article
Language:English
Published: BMC 2018-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
CDG
Glycosylation
Ceruloplasmin
Transferrin
Liver disease
Transaminase
Online Access:http://link.springer.com/article/10.1186/s13023-017-0757-3

Internet

http://link.springer.com/article/10.1186/s13023-017-0757-3

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