Results 71 to 80 of about 794 (130)

Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective

Therapeutic Advances in Rare Disease, 2022
This article is written by the parent of a child living with PMM2 -congenital disorder of glycosylation (abbreviated to PMM2 -CDG). It provides a parental perspective of the journey taken from diagnosis to present day and details the effect of off-label ...
Konstantin Feinberg
doaj   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

D‐Mannose Alleviates Type 2 Diabetes and Rescues Multi‐Organ Deteriorations by Controlling Release of Pathological Extracellular Vesicles

Exploration, Volume 5, Issue 5, October 2025.
In this study, Zhang and colleagues show that drinking‐water supplementation of D‐mannose serves as an effective and potential therapeutic of type 2 diabetes, with improvement of both liver health and bone mass. The effect is exerted through suppressing macrophage release of extracellular vesicles based on metabolic control of CD36 expression.
Sha Zhang, Kai Zhang, Chen‐Xi Zheng, Ying‐Feng Gao, Guo‐Rong Deng, Xu Zhang, Yuan Yuan, Ting Jia, Si‐Yuan Tang, Guang‐Xiang He, Zhen Gong, Na Zhao, Bo Ma, Hua Tian, Hong Zhang, Zhe Li, Yong‐Chang Di‐Wu, Yi‐Han Liu, Liang Kong, Jing Ma, Yan Jin, Bing‐Dong Sui   +21 more
wiley   +1 more source

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)

JA Clinical Reports, 2017
Background Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions.
Wataru Sakai, Yusuke Yoshikawa, Yasuyuki Tokinaga, Michiaki Yamakage   +3 more
doaj   +1 more source

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from ...
Nobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada   +2 more
wiley   +1 more source

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley   +1 more source

Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation

G3: Genes, Genomes, Genetics, 2019
Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally.
Jessica P. Lao, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Joshua D. Mast, Ethan O. Perlstein   +5 more
doaj   +1 more source

Identification of Compound Heterozygous DPM1 Variants in a Pediatric Patient With Congenital Disorder of Glycosylation Type Ie

Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.
Congenital disorders of glycosylation (CDG) constitute a group of rare genetic metabolic diseases caused by defects in the synthesis and modification of oligosaccharides. CDG‐Ie is a rare subtype caused by mutations in the DPM1 gene. We describe a female patient who presented with ocular abnormalities, motor retardation, hypotonia, hepatic dysfunction,
Wei Song, Wenzhi Zhou, Liu Yang, Li Tang, Nur Arslan   +4 more
wiley   +1 more source

A Novel Missense Variant in Ultrarare SLC35A1‐CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers

Human Mutation, Volume 2025, Issue 1, 2025.
SLC35A1‐CDG is a very rare type of congenital disorders of glycosylation (CDG) with only five cases known to date. Here, we review the literature and present new data from a sixth patient carrying the uncharacterized variant c.133A>G; p.Thr45Ala in the SLC35A1 gene.
Kristina Falkenstein, Lukas Hoeren, Frauke Kikul, Gernot Poschet, Christian Lüchtenborg, Ines B. Brecht, Ruth Falb, Darja Gauck, Tobias Haack, Andreas Hecker, Nastassja Himmelreich, Jürgen G. Okun, Britta Brügger, Christian Thiel, Aziz ur Rehman. Aziz   +14 more
wiley   +1 more source

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood.
Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Tristen Moors, Andrew C. Edmondson, Kristin A. Kantautas, Mercedes Serrano, Paula A. Videira, Vanessa dos Reis Ferreira   +10 more
doaj   +1 more source