Results 151 to 160 of about 15,514 (222)

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

Abnormal glycosylation in Joubert syndrome type 10 [PDF]

, 2017

core   +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

FSH isoform pattern in classic galactosemia [PDF]

, 2010
Cynthia S. Gubbels, Chris M. G. Thomas, Will K. W. H. Wodzig, André J. Olthaar, Jaak Jaeken, Fred C. G. J. Sweep, M. Estela Rubio-Gozalbo   +6 more
core   +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