Results 141 to 150 of about 15,514 (222)

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking. [PDF]

Hum Mol Genet, 2022
Wilson MP, Durin Z, Unal Ö, Ng BG, Marrecau T, Keldermans L, Souche E, Rymen D, Gündüz M, Köse G, Sturiale L, Garozzo D, Freeze HH, Jaeken J, Foulquier F, Matthijs G.   +15 more
europepmc   +1 more source

Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy. [PDF]

Am J Case Rep
Al-Ahmari AA.
europepmc   +1 more source

Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report. [PDF]

Clin Case Rep
Jabbaripour Sarmadian A, Abdinia B, Seyed Toutounchi K, Saberi M, Eskandarzadeh S.   +4 more
europepmc   +1 more source

TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy. [PDF]

Front Genet, 2022
Fang Y, Abuduxikuer K, Wang YZ, Li SM, Chen L, Wang JS.   +5 more
europepmc   +1 more source

Neuromuscular Defects in a <i>Drosophila</i> Model of the Congenital Disorder of Glycosylation SLC35A2-CDG. [PDF]

Biomolecules
Itoh K, Kurogochi M, Kaname T, Furukawa JI, Nishihara S.   +4 more
europepmc   +1 more source

A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants. [PDF]

Am J Med Genet A, 2022
Geiculescu I, Dranove J, Cosper G, Edmondson AC, Morava-Kozicz E, Carter LB.   +5 more
europepmc   +1 more source

Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases. [PDF]

Mol Genet Metab
Altassan R, Aldhahri SK, Macdonald G, Shah R, Morava E.   +4 more
europepmc   +1 more source

Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype. [PDF]

Mol Genet Genomic Med, 2023
Al Tuwaijri A, Alyafee Y, Umair M, Alsubait A, Alharbi M, AlEidi H, Ballow M, Aldrees M, Alam Q, Al Abdulrahman A, Alrifai MT, Alfadhel M.   +11 more
europepmc   +1 more source

Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia. [PDF]

Front Med (Lausanne), 2022
Midena G, Pilotto E.
europepmc   +1 more source

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation. [PDF]

Am J Hum Genet
Dardas Z, Harrold L, Calame DG, Salter CG, Kikuma T, Guay KP, Ng BG, Sano K, Saad AK, Du H, Sangermano R, Patankar SG, Jhangiani SN, Gürsoy S, Abdel-Hamid MS, Ahmed MKH, Maroofian R, Kaiyrzhanov R, Salayev K, Jones WD, Pérez Caballero A, McGavin L, Spiller M, Durkie M, Wood N, O'Grady L, Goldenberg P, Neumeyer AM, Begtrup A, Abdel-Ghafar SF, Zaki MS, Van Esch H, Posey JE, Wenger OK, Scott EM, Bujakowska KM, Gibbs RA, Pehlivan D, Marafi D, Leslie JS, Ubeyratna N, Day J, Owens M, Settle J, Balkhy S, Tamim A, Alabdi L, Alkuraya FS, Takeda Y, Freeze HH, Hebert DN, Lupski JR, Crosby AH, Baple EL.   +53 more
europepmc   +1 more source