Results 71 to 80 of about 7,146 (119)

Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia. [PDF]

Mol Genet Metab Rep
Luo C, Peng D, Li Y, Liu S, Wu Q, Xu X, Wen J.   +6 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

Novel insight into FCSK-congenital disorder of glycosylation through a CRISPR-generated cell model. [PDF]

Mol Genet Genomic Med
Fazelzadeh Haghighi M, Jafari Khamirani H, Fallahi J, Monfared AA, Ashrafi Dehkordi K, Tabei SMB.   +5 more
europepmc   +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

Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation. [PDF]

Mol Genet Metab Rep
Zhong D, Huang X, Feng T, Zeng J, Gu S, Ning F, Yang Y, Zhu J, Wang Y, Chen R, Ma G.   +10 more
europepmc   +1 more source

Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition. [PDF]

Mol Genet Metab Rep
Ezell KM, Furuta Y, Oglesbee D, Pivnick EK, Rinker D, Sheehan JH, Tinker RJ, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Koziura M, Phillips JA, Undiagnosed Diseases Network.   +14 more
europepmc   +1 more source