Results 101 to 110 of about 6,717 (197)

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

PGM3-CDG [PDF]

, 2020
openaire   +1 more source

COG7-CDG [PDF]

, 2020
openaire   +1 more source

Lipo-Glc-1,6-P₂: A Bioprecursor Prodrug for Phosphomannomutase-2 Congenital Disorder of Glycosylation. [PDF]

IUBMB Life
Sodano F, Monticelli M, Hay Mele B, Rolando B, Lazzarato L, De Simone A, Andrisano V, Paris D, Rimoli MG, Cubellis MV, Andreotti G.   +10 more
europepmc   +1 more source

COG8-CDG [PDF]

, 2020
openaire   +1 more source

Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG. [PDF]

Cells
Shah R, Budhraja R, Radenkovic S, Preston G, King AT, Sabry S, Bleukx C, Shammas I, Young L, Chandran J, Byeon SK, Hrstka R, Smith DY, Staff NP, Drake R, Sloan SA, Pandey A, Morava E, Kozicz T.   +18 more
europepmc   +1 more source

DPM3-CDG [PDF]

, 2020
openaire   +1 more source

Participatory Action Research: Meaningful Student Involvement in Medical Curriculum Development. [PDF]

Clin Teach
Tyson Y, Al-Jawad M.
europepmc   +1 more source

RFT1-CDG [PDF]

, 2020
openaire   +1 more source

Neuro-Ophthalmic Presentation of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation: A Case of Monozygotic Twins. [PDF]

Cureus
Swaroop S, Dasgupta S, Srivastava P, Jain SD, Nag DS, Tanti SK.   +5 more
europepmc   +1 more source