Results 91 to 100 of about 6,916 (192)

DPM3-CDG [PDF]

, 2020
openaire   +1 more source

RFT1-CDG [PDF]

, 2020
openaire   +1 more source

B4GALT1-related congenital disorder of glycosylation mimicking Ehlers-Danlos syndrome: a child with multisystem involvement and nephrotic syndrome. [PDF]

Clin Exp Pediatr
Ganieva M, Boltaboeva M, Ganiyeva U, Efimenko O, Haydarov A, Toshboev S.   +5 more
europepmc   +1 more source

ALG9-CDG [PDF]

, 2020
openaire   +1 more source

pH-responsive CDs-based nanoplatform for chemo-resistant esophageal cancer treatment via downregulation of HIF-1α related pathway. [PDF]

J Nanobiotechnology
Wang X, Zhang Y, Wu H, Yang Z, Ma S, Li L, Guo L, Yan L, Zhang B, Liu J, Diao H, Ren G, Zhang C, Liu W.   +13 more
europepmc   +1 more source

ALG2-CDG [PDF]

, 2020
openaire   +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

PMM2-CDG [PDF]

, 2020
openaire   +1 more source

Management of pregnancy and outcomes in a woman with mannose-6-phosphate isomerase deficiency (MPI-CDG). [PDF]

Mol Genet Metab Rep
Loh JHM, Khin MO, Bassett J, Mighell A, Jowett S, Moreea S, Woodall A, Sia P, Hussain A, Hufton A, Stepien KM.   +10 more
europepmc   +1 more source

SRD5A3-CDG [PDF]

, 2020
openaire   +1 more source