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

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

Abstract 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....

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Bibliographic Details
Main Authors: Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha, Anna Tylki-Szymańska
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Glycosylation
Congenital disorders of glycosylation
Serum transferrin isoforms
Follow-up
Online Access:https://doi.org/10.1186/s13023-020-01657-5

Internet

https://doi.org/10.1186/s13023-020-01657-5

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