Results 121 to 130 of about 6,717 (197)

MPI-CDG [PDF]

, 2020
openaire   +1 more source

Editorial: Inborn errors of carbohydrate metabolism volume II. [PDF]

Front Genet
García-Ortíz JE, Doederlein-Schwartz IV, Abreu-González M, Martínez-Duncker I.   +3 more
europepmc   +1 more source

Evolutionary Diffusion Framework Empowering High-Performance Freeform Terahertz Metasurface Sensing. [PDF]

Sensors (Basel)
Zhang C, Pan M, Hong Q, Shen S, Guo C, Shi Y, Zhang Y.   +6 more
europepmc   +1 more source

TMEM165-CDG [PDF]

, 2020
openaire   +1 more source

Biosynthetic and genetic pathways related to sialic acid metabolism. [PDF]

J Biol Chem
Huang S, van de Ven EGP, Tee T, Lefeber DJ.   +3 more
europepmc   +1 more source

DPM1-CDG [PDF]

, 2020
openaire   +1 more source

Insights Into the Pathological Glycosylation Associated With COG6-CDG. [PDF]

Hum Mutat
Pakanová Z, Krchňák M, Nemčovič M, Kodríková R, Ondrušková N, Štufková H, Giertlová M, Okáľová K, Stretavská P, Martineková S, Mezenská RZ, Urminská M, Škopková M, Andrésová A, Lysinová M, Belujská L, Šalingová A, Beke G, Račková L, Honzík T, Hansíková H, Baráth P.   +21 more
europepmc   +1 more source

Identification of Compound Heterozygous <i>DPM1</i> Variants in a Pediatric Patient With Congenital Disorder of Glycosylation Type Ie. [PDF]

Case Rep Pediatr
Song W, Zhou W, Yang L, Tang L.
europepmc   +1 more source

COG1-CDG [PDF]

, 2020
openaire   +1 more source

Multi-Omics Characterization of a Novel <i>SSR4</i> Variant in Congenital Disorders of Glycosylation. [PDF]

Metabolites
Abu Bakar N, Hamzan NI, Majawit EM, Ahmad Ridzuan SN, Hassan NH, Habib A, Ngu LH.   +6 more
europepmc   +1 more source