ALLMedicine™ Alg6-cdg Center
Research & Reviews 3 results
European Journal of Medical Genetics; Starosta RT, Tarnowski J et. al.
May 15th, 2020 - Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant syndrome of developmental delay, cortical vision loss with optic nerve atrophy, epilepsy, and autism spectrum disorder. Due to its many overlapping fe...
Jul 1st, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79320 Definition A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-...
Journal of Inherited Metabolic Disease; Morava E, Tiemes V et. al.
Jun 12th, 2016 - Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. Base...