Results 21 to 30 of about 6,449 (175)

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Orphanet Journal of Rare Diseases, 2021
PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-galactose in 9 PMM2-CDG patients.
Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava   +7 more
doaj   +1 more source

Clinical and Molecular Characterization of ALG1-CDG

Pediatric Neurology Briefs, 2016
Investigators from the Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California and a large study group utilized a combination of exome sequencing, targeted gene panels, and Sanger sequencing to identify thirty-one
Radhika Dhamija, Chelsea Chambers
doaj   +1 more source

Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation

Frontiers in Immunology, 2022
Congenital disorders of glycosylation (CDG) are inherited metabolic diseases characterized by mutations in enzymes involved in different steps of protein glycosylation, leading to aberrant synthesis, attachment or processing of glycans.
Paola de Haas, Marien I. de Jonge, Hans J. P. M. Koenen, Ben Joosten, Mirian C. H. Janssen, Mirian C. H. Janssen, Lonneke de Boer, Wiljan J. A. J. Hendriks, Dirk J. Lefeber, Dirk J. Lefeber, Alessandra Cambi   +10 more
doaj   +1 more source

SLC37A4‐CDG: Second patient [PDF]

JIMD Reports, 2021
AbstractRecently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described. This causes mislocalization of the glucose‐6‐phosphate transporter to the Golgi leading to a congenital disorder of glycosylation type II (SLC37A4‐CDG). Only one patient has been reported showing liver disease that improved
Wilson, Matthew P., Quelhas, Dulce, Leão-Teles, Elisa, Sturiale, Luisa, Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Souche, Erika, Rodrigues, Esmeralda, Campos, Teresa, Van Schaftingen, Emile, Foulquier, François, Garozzo, Domenico, Matthijs, Gert, Jaeken, Jaak   +14 more
openaire   +9 more sources

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

Orphanet Journal of Rare Diseases, 2021
Background The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder, but also from patient to patient.
Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Doederlein Schwartz, Eva Morava   +9 more
doaj   +1 more source

Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders

Çocuk Dergisi, 2023
Introduction: Congenital glycosylation defects (CDGs) manifest with multisystemic symptoms involving the immune, central nervous, endocrine, and musculoskeletal systems. A total of 137 distinct CDG types have been identified to date.
Sebile Kılavuz, Fatma Derya Bulut, Deniz Kor, Berna Şeker Yılmaz, Atıl Bişgin, Fadli Demir, Bahriye Atmış, Derya Alabaz, Neslihan Mungan, Mustafa Yılmaz   +9 more
doaj   +1 more source

Investigation on the Mechanism and Properties of a Novel Colloidal Dispersion Gel for Profile Modification in High Salinity Reservoir

Lithosphere, 2022
A novel colloidal dispersion gel (CDG) was synthesized by cross-linking polysaccharide-based hyperbranched polymer (SMHBP) with aluminum citrate. Four factors affecting gelation properties were investigated including SMHBP concentration, the weight ratio
Yuhu Bai, Suran Wang, Yonghui Wu, Lei Zhao, Bingxiang Xu   +4 more
doaj   +1 more source

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava   +10 more
doaj   +1 more source

Fast-Locking and High-Resolution DLL With Binary Search and Clock Failure Detection for Wide Frequency Ranges in 3-nm FinFET CMOS

IEEE Open Journal of the Solid-State Circuits Society
This article presents a digital delay-locked loop (DLL) with binary search (BS) locking, designed to cover a broad frequency-range from 533 MHz to 4.26 GHz.
Nicolas Wainstein, Eran Avitay, Eugene Avner   +2 more
doaj   +1 more source

How Particle Size Affects Consolidation Behavior, Strain and Properties of Li6PS5Cl Fast Ionic Conductors

Advanced Energy Materials, EarlyView.
The densification process of Li6PS5Cl powders with varying particles size distributions reveals differences in smaller and larger distributions. Higher strain is revealed for the smaller particle size distribution from X‐ray diffraction. Discrete element method simulations uncover that the reason for the higher strain is not the particle size itself ...
Vasiliki Faka, Mohammed Alabdali, Martin A. Lange, Franco M. Zanotto, Can Yildirim, Mikael Dahl Kanedal, Jędrzej Kondek, Matthias Hartmann, Oliver Maus, Dominik Daisenberger, Michael Ryan Hansen, Jozef Keckes, Daniel Rettenwander, Alejandro A. Franco, Wolfgang G. Zeier   +14 more
wiley   +1 more source