Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients
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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