Results 61 to 70 of about 9,667 (152)

Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability

Frontiers in Genetics
Introduction:Nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) gene variants are associated with a range of phenotypes, including epilepsy, intellectual disability, cerebellar ataxia, Parkinson’s disease, dystonia, and congenital disorders of ...
Ruolin Li, Jiayi Yang, Jinfeng Ma, Aimei Zhang, Hongfang Li   +4 more
doaj   +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

Nutrition interventions in congenital disorders of glycosylation. [PDF]

Trends Mol Med, 2022
Boyer SW, Johnsen C, Morava E.
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

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

Congenital disorder of glycosylation [PDF]

, 2020
openaire   +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

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

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