Results 61 to 70 of about 7,146 (119)

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

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes. [PDF]

Front Endocrinol (Lausanne)
Del Medico G, Ferri L, Procopio E, Annibalini G, Barbieri E, Barone R, Guerrini R, Morrone A, Stagi S.   +8 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

Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation. [PDF]

Mol Genet Metab, 2023
Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E.   +9 more
europepmc   +1 more source

A Mild Ataxia-Dominant Phenotype of Phosphomannomutase 2-Congenital Disorder of Glycosylation in a Tunisian Family: Broadening the Geographical Scope. [PDF]

J Mov Disord
Zouari R, Hlioui L, Saied MZ, Ben Mohamed D, Ben Sassi S, Amouri R.   +5 more
europepmc   +1 more source

Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review. [PDF]

Front Genet, 2022
Wang J, Gou X, Wang X, Zhang J, Zhao N, Wang X.   +5 more
europepmc   +1 more source

The long way to diagnosis: attention disorder, alcohol addiction or congenital disorder of glycosylation? A case report. [PDF]

BMC Psychiatry
Faustmann TJ, Hensel L, Bahic A, Wada Y, Grüneberg M, Marquardt T, Kamp D, Schilbach L.   +7 more
europepmc   +1 more source

Pediatric Anesthetic Management of a Patient With an ALG-13 Gene Mutation, a Rare Congenital Disorder of Glycosylation. [PDF]

Clin Case Rep
Thakkar E, Iasiello JA, Cai SR, Hutton A.   +3 more
europepmc   +1 more source