Results 81 to 90 of about 15,514 (222)

A Case Report of Cantu Syndrome Highlighting the Importance of Genetic Sequencing in Addition to Radiological Testing [PDF]

Journal of Clinical and Diagnostic Research
An infant initially suspected to have glutaric aciduria was later diagnosed with Cantu syndrome and found to be a carrier of Congenital Disorder of Glycosylation Type 1j.
Sriranjani Srinivasan, Revathi Nachiappan, Sivakumar Krishnaswamy Vijayaramanujam, Jayakumar Muthaiyan   +3 more
doaj   +1 more source

Carbohydrate‐Based Drug Discovery: Synthetic Strategies and Clinical Applications

Israel Journal of Chemistry, Volume 66, Issue 3, May 2026.
The picture depicts the molecules discussed in the review. On the left side, the general scaffold of sugars is shown. Next to it are four carbohydrate‐based molecules, including remdesivir, islatravir, empagliflozin, and Globo‐H. Remdesivir and islatravir contain a substituted ribose ring attached to a modified nucleobase.
Stephan Scheeff, Jemma Arakelyan, Billy Wai‐Lung Ng   +2 more
wiley   +1 more source

Congenital disorders of glycosylation (CDG): Quo vadis?

European Journal of Medical Genetics, 2018
The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families.
Peanne, R., de Lonlay, P., Foulquier, F., Kornak, U., Lefeber, D.J., Lefeber, D.J., Lefeber, D.J., Lefeber, D.J., Morava, E., Perez, B., Seta, N., Thiel, C, van Schaftingen, E., Matthijs, G., Jaeken, J.   +14 more
openaire   +8 more sources

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation

Cellular and Molecular Life Sciences
SLC35A2-CDG is an X-linked congenital disorder of glycosylation (CDG), characterized by defective UDP-galactose transport into the Golgi and endoplasmic reticulum and consequent insufficient galactosylation of glycans.
Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, Dries Verdegem, Christian Thiel, Rita Barone, Mercedes Serrano, Tomáš Honzík, Eva Morava, Pieter Vermeersch, François Foulquier, Willy Morelle, Johannes V. Swinnen, Daisy Rymen, David Cassiman, Bart Ghesquière, Peter Witters   +16 more
doaj   +1 more source

Emerging New Roles of GM130, a cis-Golgi Matrix Protein, in Higher Order Cell Functions

Journal of Pharmacological Sciences, 2010
GM130 is a peripheral membrane protein strongly attached to the Golgi membrane and is isolated from the detergent and salt resistant Golgi matrix. GM130 is rich in coiled-coil structures and predicted to take a rod-like shape. Together with p115, giantin,
Nobuhiro Nakamura
doaj   +1 more source

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

Molecular Genetics and Metabolism Reports, 2020
The mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is caused by phosphomannose isomerase deficiency. Clinical features include hyperinsulinaemic hypoglycaemia, protein losing enteropathy, hepatomegaly and hepatic fibrosis ...
Kinza Noman, Christian J. Hendriksz, Graham Radcliffe, Federico Roncaroli, Sulleman Moreea, Afifah Hussain, Karolina M. Stepien   +6 more
doaj   +1 more source

Regulation of dolichol-linked glycosylation [PDF]

, 2018
In the majority of congenital disorders of glycosylation, the assembly of the glycan precursor GlcNAc2Man9Glc3 on the polyprenol carrier dolichyl-pyrophosphate is compromised.
Welti, Michael
core  

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Editorial: Inherited Protein Glycosylation Defects in Humans

Frontiers in Genetics, 2022
Aleksandra Jezela-Stanek, Karolina M. Stepien, Anna Tylki-Szymanska   +2 more
doaj   +1 more source