Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12055
Abstract: SLC35A2‐CDG is caused by mutations in the X‐linked SLC35A2 gene encoding the UDP‐galactose transporter. SLC35A2 mutations lead to hypogalactosylation of N‐glycans. SLC35A2‐CDG is characterized by severe neurological symptoms and, in many patients, early‐onset epileptic encephalopathy.… read more here.
Keywords: clinical neuroradiological; biochemical features; slc35a2 cdg; neuroradiological biochemical ... See more keywords
N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant
Sign Up to like & getrecommendations! Published in 2023 at "Biomedicines"
DOI: 10.3390/biomedicines11020580
Abstract: Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by a defect in the process of protein glycosylation. In this work, we present a comprehensive glycoprofile analysis of a male… read more here.
Keywords: patient novel; variant; glycoprofiling slc35a2; slc35a2 cdg ... See more keywords