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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5763540/
https://ncbi.nlm.nih.gov/pubmed/29321044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0757-3
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