Results 121 to 130 of about 11,049 (200)

Nutrition interventions in congenital disorders of glycosylation. [PDF]

Trends Mol Med, 2022
Boyer SW, Johnsen C, Morava E.
europepmc   +1 more source

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation. [PDF]

Sci Rep, 2023
Kas SM, Mundra PA, Smith DL, Marais R.
europepmc   +1 more source

Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation. [PDF]

BMC Res Notes, 2023
Sabry S, Eissa NR, Zaki MS.
europepmc   +1 more source

Congenital disorder of glycosylation [PDF]

, 2020
openaire   +1 more source

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

The Role of Pyridoxine Treatment for Seizures in Patients with PGAP3-Congenital Disorders of Glycosylation. [PDF]

Ann Indian Acad Neurol
Beşen Ş, Özkale Y, Sangün Ö, Erol İ.   +3 more
europepmc   +1 more source

Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective. [PDF]

Orphanet J Rare Dis, 2022
Monticelli M, Francisco R, Brasil S, Marques-da-Silva D, Rijoff T, Pascoal C, Jaeken J, Videira PA, Dos Reis Ferreira V.   +8 more
europepmc   +1 more source

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients. [PDF]

Orphanet J Rare Dis
Zhao P, Tan L, Meng Q, Zhang L, Huang Y, Zhang X, Hu Y, Zhou S, He X.   +8 more
europepmc   +1 more source

Chemical Therapies for Congenital Disorders of Glycosylation. [PDF]

ACS Chem Biol, 2022
Sosicka P, Ng BG, Freeze HH.
europepmc   +1 more source

The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant. [PDF]

Mol Syndromol, 2023
Buyukdogan M, Hancer VS, Sucak A.
europepmc   +1 more source