Results 161 to 170 of about 15,514 (222)

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

COG5-CDG: expanding the clinical spectrum [PDF]

core   +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

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

Congenital Disorders of Glycosylation

Annual Review of Genomics and Human Genetics, 2001
Congenital disorders of glycosylation (CDG) are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystem diseases that include severe brain involvement.
J, Jaeken, G, Matthijs
openaire   +2 more sources

Congenital Disorders of Glycosylation

Advances in Neonatal Care, 2012
Congenital disorders of glycosylation (CDG) are a group of disorders involving a defect in the synthesis of oligosaccharides. Oligosaccharides are fundamental for protein stability and cellular communication and are present in almost every cell in the human body.
Amanda G, Woods, Christopher W, Woods, Timothy M, Snow   +2 more
openaire   +2 more sources