Results 111 to 120 of about 7,542 (179)

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

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

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

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

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

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

A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis. [PDF]

Front Genet
Sun W, Jin X, Zhu X.
europepmc   +1 more source

Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat. [PDF]

Int J Mol Sci
Best HL, Cook SR, Waller-Evans H, Lloyd-Evans E.   +3 more
europepmc   +1 more source