Glycosylation Disorders

Glycosylation disorders are typically associated with disruptions of early steps in glycan biosynthesis pathways. This feed focuses on the latest research on mechanisms and pathways underlying glycosylation disorders.

June 13, 2020
Open Access

Vacua with Small Flux Superpotential

Physical Review Letters
Mehmet DemirtasJakob Moritz
June 5, 2020
Open Access

Utility of metabolic screening in neurological presentations of infancy

Annals of Clinical and Translational Neurology
Djurdja DjordjevicJames J Dowling
June 11, 2020

Wilson disease

Current Opinion in Neurology
Annu Aggarwal, Mohit Bhatt
June 20, 2020

Screening for abnormal glycosylation in a cohort of adult liver disease patients

Journal of Inherited Metabolic Disease
Jos C JansenDirk J Lefeber
July 1, 2020

Non-uniformly sampled rare-spin 4D solid state NMR experiments: assignment and characterization of IKe phage capsid

Magnetic Resonance in Chemistry : MRC
Gal PoratAmir Goldbourt
June 28, 2020
Open Access

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature

BMC Medical Genetics
Kishore KumarBabylakshmi Muthusamy
July 3, 2020
Review

Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

JHEP Reports : Innovation in Hepatology
Carmen Espinós, Peter Ferenci
June 13, 2020
Open Access

ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

Molecular Genetics & Genomic Medicine
María Eugenia de la Morena-BarrioJavier Corral
July 2, 2020

Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation typeⅡ

Zhonghua er ke za zhi. Chinese journal of pediatrics
C H LangY H Zhang
May 29, 2020

Enrichment of N-Linked Glycopeptides and Their Identification by Complementary Fragmentation Techniques

Methods in Molecular Biology
Eduardo Antonio Ramirez-Rodriguez, Joshua L Heazlewood
June 20, 2020

Spontaneous CSF Leaks and IIH: A Flawless Connection? An Experience With 167 Patients

The Laryngoscope
Jacopo ZocchiPaolo Castelnuovo
May 27, 2020
Open Access

Understanding the mammalian TRAP complex function(s)

Open Biology
Antonietta Russo
June 9, 2020

CDG biochemical screening: Where do we stand?

Biochimica Et Biophysica Acta. General Subjects
Arnaud BruneelFrançois Fenaille
May 27, 2020
Review

An Update on XMEN Disease

Journal of Clinical Immunology
Juan C RavellMichael Lenardo

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