Trouble congénital de la glycosylation de type 1a (PMM2-CDG)
Symptômes
Gestion de la maladie
Gènes analysés
PMM2
Bibliographie
Andreotti G, Pedone E, Giordano A, et al. Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. Mol Genet Genomic Med. 2013 May;1(1):32-44.
Altassan R, Péanne R, Jaeken J, et al. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow up. J Inherit Metab Dis. 2019 Jan;42(1):5-28.
Lam C, Krasnewich DM. PMM2-CDG. 2005 Aug 15 [updated 2021 May 20]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
