Results 91 to 100 of about 2,105 (164)

Glycoproteomics and Functional Characterization of Novel Variants in Siblings with ALG1-CDG. [PDF]

Biomolecules
Wei D, Wang H, Peng S, Huang Y, Yang G, Dong W, Gao X, Wang N.   +7 more
europepmc   +1 more source

Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry. [PDF]

Int J Mol Sci
Mól AR, Fontes NDC, Santos SCL, Costa E Silva C, Carvalho GDS, Lima BJCB, de Mello WD, de Carvalho DR, Barbosa EA, Lefeber DJ, Mazzeu JF, Brum JM, Brand GD.   +12 more
europepmc   +1 more source

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy. [PDF]

HGG Adv
Marquez J, Rouxel F, It FE, Couturier V, Duplomb L, Bourgeois V, Briffaut AS, Bruel AL, Chevarin M, Ganne B, Ng BG, Viviano S, Hektor MPN, Pasha RA, Gatinois V, Larrieu-Arguille C, Faure JM, Prodhomme O, Colmard M, Rivier F, Yukimune O, Poe C, Rouvet I, Vitobello A, Thauvin C, Rodriguez-Gomez GD, Tolusso LK, Katata Y, Kikuchi A, Hoffman TL, Andersson HC, Deniz E, He M, Wells CF, Denommé-Pichon AS, Edmondson AC, Freeze HH, Lam C.   +37 more
europepmc   +1 more source

Congenital Disorders of Glycosphingolipid Biosynthesis: Ultrarare Severe Syndromes or Relatively Frequent Mild Neurocognitive Illnesses? [PDF]

Biomedicines
Montavoci L, Dei Cas M, Penati S, Trinchera M.   +3 more
europepmc   +1 more source

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report. [PDF]

Front Neurol
Granger K, Do C, Quindipan C, Schmidt R, Borchert MS, Nagiel A, Chang MY.   +6 more
europepmc   +1 more source

Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study. [PDF]

Mol Genet Metab Rep
Neves CJ, Gomes A, Lourenço RA, Barbosa M, Grosso AR, Videira PA.   +5 more
europepmc   +1 more source

A drug repurposing screen reveals dopamine signaling as a candidate therapeutic pathway for PIGA-CDG. [PDF]

PLoS Genet
Aziz MC, Wilson J, Chow CY.
europepmc   +1 more source

Glycogen and Glycosylation: Friends or Foes? [PDF]

Biomolecules
Konada RSR, Osborn J, Mitra S.
europepmc   +1 more source

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG. [PDF]

Mol Genet Metab
Sarafoglou K, Lam C, Edmondson AC, Miller A, Starosta RT, Zeighami A, Horikoshi S, Vreugdenhil H, Scaglia F, Kozicz T, Tan QKG, Miller BS, Martínez-Duncker I, Berry GT, McWilliams P, Morava E, Addo Y.   +16 more
europepmc   +1 more source

Albumin as a glycoprotein biomarker in congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Garapati K, Jain A, Joshi N, Sachdeva GS, Nam D, Saraswat M, Pasupuleti RR, Schultz MJ, Kozicz T, Morava E, Pandey A.   +10 more
europepmc   +1 more source