ALG8-CDG: novel patients and review of the literature

BACKGROUND: Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported representing an expanding group of inherited disorders. ALG8-CDG (= CDG-Ih) is one of the less frequently reported types of CDG, maybe due to its severe multi-organ involvement with coagulation...

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Publicat a:Orphanet J Rare Dis
Autors principals: Höck, Michaela, Wegleiter, Karina, Ralser, Elisabeth, Kiechl-Kohlendorfer, Ursula, Scholl-Bürgi, Sabine, Fauth, Christine, Steichen, Elisabeth, Pichler, Karin, Lefeber, Dirk J., Matthjis, Gert, Keldermans, Liesbeth, Maurer, Kathrin, Zschocke, Johannes, Karall, Daniela
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Review
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4504351/
https://ncbi.nlm.nih.gov/pubmed/26066342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0289-7
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