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

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

An Update on XMEN Disease

Journal of Clinical Immunology
Juan C RavellMichael Lenardo

Sign up to follow this feed and discover related papers.

Related Feeds

Bacterial Metabolism

Baterial metabolism is how bacteria obtain the energy and nutrients they need to live and reproduce.The study of bacterial metabolism focuses on the chemical diversity of substrate oxidations and dissimilation reactions (reactions by which substrate molecules are broken down), which normally function in bacteria to generate energy. Also within the scope of bacterial metabolism is the study of the uptake and utilization of the inorganic or organic compounds required for growth and maintenance of a cellular steady state (assimilation reactions). Discover the latest research on bacterial metabolism here.

Gut & Phospholipid Metabolism

Phospholipids are the major component of cell membranes. This feed focuses on the role of gut microorganisms in phospholipid metabolism.

Human Microbiota: Small Molecules

This feed focuses on small molecules produced by the human microbiota. Several small molecules representing each of the major metabolic classes have been identified and implicated in several biological processes including modulation of the immune system and antibiosis. Here is the latest research.

Lipid & Membrane Metabolism

Lipid metabolism refers to the synthesis and degradation of lipids in cells and is a complex process essential for fat storage and construction of cellular membranes. Discover the latest research on lipid and membrane metabolism here.

Lipid Droplet Biology

Lipid droplets are cellular organelles that store neutral lipids enclosed in a phospholipid monolayer. They are at the centre of lipid and energy homeostasis, and several metabolic diseases including obesity and diabetes. Here is the latest research on lipid droplet biology.

Lipid Metabolism

Lipid metabolism is important in several cellular processes and functions including signal transduction. Disorders of lipid metabolism can occur impairing normal function. Here is the latest research on lipid metabolism and lipid disorders.


Lipidomics is a branch of metabolomics that comprehensively analyses lipids in biological systems to determine the molecules with which they interact and their function within the cell. Here is the latest research.

Lysosomal Storage Disease

Lysosomal storage diseases and related disorders are a heterogeneous group of rare diseases caused by genetic mutations that result in deficiencies of specific lysosomal enzymes. Here is the latest research on lysosomal storage diseases.

Metabolic Networks & Microbiomes

This feed focuses on proteomics, transcriptomics, and metabolomics in the human microbiota, as well as on metabolic pathways and reactions that underlie physiological and biochemical properties of the cell. Here is the latest research on metabolic networks in the microbiome.


Metabolomics refers to the large-scale study of profiling all metabolites in biological systems in a non-targeted manner. Here is the latest research.

© 2020 Meta ULC. All rights reserved