Results 131 to 140 of about 166,041,693 (206)

Congenital disorder of glycosylation [PDF]

, 2020
openaire   +1 more source

Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study. [PDF]

Mol Genet Metab Rep
Neves CJ, Gomes A, Lourenço RA, Barbosa M, Grosso AR, Videira PA.   +5 more
europepmc   +1 more source

Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry. [PDF]

Int J Mol Sci
Mól AR, Fontes NDC, Santos SCL, Costa E Silva C, Carvalho GDS, Lima BJCB, de Mello WD, de Carvalho DR, Barbosa EA, Lefeber DJ, Mazzeu JF, Brum JM, Brand GD.   +12 more
europepmc   +1 more source

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation. [PDF]

J Inherit Metab Dis, 2023
Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD.   +19 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

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

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

Chemical Therapies for Congenital Disorders of Glycosylation. [PDF]

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

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