Results 121 to 130 of about 7,542 (179)

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

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

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

Drosophila models of phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (PIGA-CDG) mirror patient phenotypes. [PDF]

G3 (Bethesda)
Thorpe HJ, Owings KG, Aziz MC, Haller M, Coelho E, Chow CY.   +5 more
europepmc   +1 more source

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Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation

American Journal of Medical Genetics Part A, 2020
AbstractCongenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a ...
Emily M. Bryant, John J. Millichap, Egidio Spinelli, Jeffrey D. Calhoun, Christopher Miller, Jessica Giannelli, Jacqueline Wolak, Victoria Sanders, Gemma L. Carvill, Joel Charrow   +9 more
openaire   +2 more sources