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

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 present...

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Detalles Bibliográficos
Autores principales: Vajro, Pietro, Zielinska, Katarzyna, Ng, Bobby G., Maccarana, Marco, Bengtson, Per, Poeta, Marco, Mandato, Claudia, D’Acunto, Elisa, Freeze, Hudson H., Eklund, Erik A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763540/
https://www.ncbi.nlm.nih.gov/pubmed/29321044
http://dx.doi.org/10.1186/s13023-017-0757-3

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