Results 81 to 90 of about 6,916 (192)

Integrated glycoproteomics reveals site-specific N-glycosylation defects in phosphomannomutase two congenital disorder of glycosylation. [PDF]

J Biol Chem
Nilsson J, Mirgorodskaya E, Wallem CS, Noborn F, Eklund EA, Larson G, Blomqvist M.   +6 more
europepmc   +1 more source

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway. [PDF]

J Inherit Metab Dis
Gallego D, Andreotti G, Monticelli M, Paris D, Martín-Martínez A, Gámez A, Serrano M, Córdoba-Caballero J, Seoane P, Ranea JAG, Pérez B.   +10 more
europepmc   +1 more source

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

B4GALT1-CDG [PDF]

, 2020
openaire   +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

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG. [PDF]

J Inherit Metab Dis
Serrano M, Epifani F, Marino R, McWilliams P.   +3 more
europepmc   +1 more source

MPDU1-CDG [PDF]

, 2020
openaire   +1 more source

Glycosylation disorders in pediatric epilepsy: pathophysiology, imaging and precision therapy. [PDF]

Front Neurol
Fan L, Shen Y, Wang J, Gan J.
europepmc   +1 more source

COG5-CDG [PDF]

, 2020
openaire   +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