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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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Bogdańska, Anna, Lipiński, Patryk, Szymańska-Rożek, Paulina, Jezela-Stanek, Aleksandra, Rokicki, Dariusz, Socha, Piotr, Tylki-Szymańska, Anna
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
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Acesso em linha: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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