Results 101 to 110 of about 6,916 (192)

Genetic Rescue of Pathogenic O-GlcNAc Dyshomeostasis Associated with Microcephaly and Motor Deficits. [PDF]

eNeuro
Authier F, Esperon-Abril I, Coquelin KS, Skoven CS, Eskildsen SF, Ondruskova N, Ferenbach AT, Thomsen JS, Hansen B, van Aalten DMF.   +9 more
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

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]

J Inherit Metab Dis
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM.   +7 more
europepmc   +1 more source

ALG12-CDG [PDF]

, 2020
openaire   +1 more source

Biomimetic Studies on the Reactivity of Sulfur-Centered Radicals with Purine Moieties of DNA. [PDF]

Biomolecules
Masi A, Barata-Vallejo S, Chatgilialoglu C.   +2 more
europepmc   +1 more source

MAN1B1-CDG [PDF]

, 2020
openaire   +1 more source

Mesh reconstruction of the myopectineal region following wide local excision for inguinofemoral tumors. [PDF]

J Abdom Wall Surg
George PY, Stephen PT, Titus DK, Roopavathana B, Ambrose NP, Joseph P, Chase S.   +6 more
europepmc   +1 more source

DK1-CDG [PDF]

, 2020
openaire   +1 more source

Stress-induced secretory pathway disruption causes atypical metalloproteinase transport in PMM2-CDG. [PDF]

iScience
Wu CL, Wiggins K, Dukes-Rimsky L, Garapati K, Pandey A, Steet R, Flanagan-Steet H.   +6 more
europepmc   +1 more source

STT3B-CDG [PDF]

, 2020
openaire   +1 more source