Results 141 to 150 of about 6,717 (197)

ALG3-CDG [PDF]

, 2020
openaire   +1 more source

A homozygous nonsense variant in the oligosaccharyltransferase complex gene, RPN1, causes a congenital disorder of glycosylation. [PDF]

HGG Adv
Ng BG, Zhang W, Neil JE, Danish M, Marafi D, Kamal TM, Bastaki L, Al Saffar M, Yang E, He M, Walsh CA, Mochida GH, Freeze HH.   +12 more
europepmc   +1 more source

SLC35A2-CDG [PDF]

, 2020
openaire   +1 more source

Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy. [PDF]

Am J Case Rep
Al-Ahmari AA.
europepmc   +1 more source

ALG1-CDG [PDF]

, 2020
openaire   +1 more source

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring. [PDF]

J Inherit Metab Dis
Epifani F, Cabus L, Nolasco GA, Bolasell M, Pérez J, Alcalá A, Fernández P, Lizano E, Márquez G, Belmonte S, Carbonell-Sala S, Lagarde J, Curado J, Hernando-Davalillo C, Serrano M.   +14 more
europepmc   +1 more source

Structural basis of QueC-family protein function in qatABCD anti-phage defense. [PDF]

Nat Commun
Gao A, Wassarman DR, Kranzusch PJ.
europepmc   +1 more source

The Importance of N- and O-Glycosylation of Brain Cell Surface Glycoproteins. [PDF]

Glycobiology
Noel M, Zürcher YM, Tulin EKC, Cummings RD.   +3 more
europepmc   +1 more source

Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis. [PDF]

Mol Genet Metab Rep
Kodríková R, Pakanová Z, Krchňák M, Krajčovičová V, Šalingová A, Skalická K, Kolníková M, Baráth P, Nemčovič M.   +8 more
europepmc   +1 more source