Results 81 to 90 of about 9,755 (171)

Congenital disorders of glycosylation: narration of a story through its patents. [PDF]

Orphanet J Rare Dis, 2023
Monticelli M, D'Onofrio T, Jaeken J, Morava E, Andreotti G, Cubellis MV.   +5 more
europepmc   +1 more source

[Congenital disorders of glycosylation].

Postepy higieny i medycyny doswiadczalnej, 2004
Congenital disorders of glycosylation are group of hereditary diseases resulting in severe psychomotor retardation and multiorgan failure. So far eleven different defects were identified on the pathway of N-glycan biosynthesis. Seven of them belong to CDG type I and result in incomplete occupation of potential N-glycosylation sites.
openaire   +1 more source

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