Results 101 to 110 of about 7,768 (132)

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

P327: Congenital disorder of glycosylation type IIa with a novel phenotype of bilateral congenital glaucoma

Genetics in Medicine Open
Alena Egense, Timothy Do, Kristin Herman, James Brandt, Suma Shankar   +4 more
doaj   +1 more source

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines. [PDF]

Mol Genet Metab
Shah R, Eklund EA, Radenkovic S, Sadek M, Shammas I, Verberkmoes S, Ng BG, Freeze HH, Edmondson AC, He M, Kozicz T, Altassan R, Morava E.   +12 more
europepmc   +1 more source

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG. [PDF]

J Biol Chem
Hirata E, Sakata KT, Dearden GI, Noor F, Menon I, Chiduza GN, Menon AK.   +6 more
europepmc   +1 more source

The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry. [PDF]

Ann Lab Med
Kim KB, Lee GS, Shin S, Kim DC, Seo D, Kweon H, Kang H, Park S, Kim DH, Ryoo N, Lee S, Ha JS.   +11 more
europepmc   +1 more source

O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome. [PDF]

J Biol Chem
Mayfield JM, Hitefield NL, Czajewski I, Vanhye L, Holden L, Morava E, van Aalten DMF, Wells L.   +7 more
europepmc   +1 more source