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Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

BACKGROUND: Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids. Our study aimed to describe the clinical, biochemical, and molecular findings of CDG patients, and to present the long-term follow-up. MATERIA...

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Publicat a:Orphanet J Rare Dis
Autors principals: Bogdańska, Anna, Lipiński, Patryk, Szymańska-Rożek, Paulina, Jezela-Stanek, Aleksandra, Rokicki, Dariusz, Socha, Piotr, Tylki-Szymańska, Anna
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7789416/
https://ncbi.nlm.nih.gov/pubmed/33407696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01657-5
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