Article
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.
Orphanet journal of rare diseases - 6 Jan 2021
Bogdańska Anna, Lipiński Patryk, Szymańska-Rożek Paulina, Jezela-Stanek Aleksandra, Rokicki Dariusz, Socha Piotr, Tylki-Szymańska Anna
Abstract excerpt
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. MATERIAL AND METHODS: A single-center study (1995-2019 years) of patients with congenital disorders of N-glycosylation and...
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