Results 71 to 80 of about 3,821 (157)

The development of end stage renal disease in two patients with PMM2‐CDG

JIMD Reports, 2022
We report two patients with PMM2‐CDG who developed end stage renal disease (ESRD). Renal abnormalities of clinical significance have only been reported in about 6% of patients with PMM2‐CDG and have rarely been reported as the cause of death.
Henna Tiwary, Leah E. Hecht, William J. Brucker, Gerard T. Berry, Nancy M. Rodig   +4 more
doaj   +1 more source

Heat Capacity Measurements and Thermodynamic Assessment of the Y2O3–Ta2O5 System

Journal of the American Ceramic Society, Volume 109, Issue 2, February 2026.
ABSTRACT Phase equilibria in the Y2O3–Ta2O5 system play an important role in the development of new materials for thermal barrier coating (TBC) applications, with higher thermal stability resulting in more efficient gas turbines with reduced exhaust gas emissions.
M. Löffler, D. A. de Abreu, A. Habermann, M. Lepple, O. Fabrichnaya   +4 more
wiley   +1 more source

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway

Orphanet Journal of Rare Diseases, 2020
Background Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders.
Raquel López-Gálvez, María Eugenia de la Morena-Barrio, Alberto López-Lera, Monika Pathak, Antonia Miñano, Mercedes Serrano, Delphine Borgel, Vanessa Roldán, Vicente Vicente, Jonas Emsley, Javier Corral   +10 more
doaj   +1 more source

Transcriptional analysis of the innate immune response of ducks to different species-of-origin low pathogenic H7 avian influenza viruses [PDF]

, 2013
BACKGROUND: Wild waterfowl, including ducks, represent the classic reservoir for low pathogenicity avian influenza (LPAI) viruses and play a major role in the worldwide dissemination of AIV.
Brian S Ladman, Calvin L Keeler, Erica V Spackman, Jack Gelb, Lauren A Preskenis, Lorna S Dougherty, Michele N Maughan   +6 more
core   +1 more source

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens, Udo F. H. Engelke, Ron A. Wevers, Dirk J. Lefeber, Purva Kulkarni   +4 more
wiley   +1 more source

GMPPB‐CDG Results in Lysosomal Dysfunction and Acid Alpha‐Glucosidase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GDP‐mannose pyrophosphorylase B (GMPPB) deficiency is a congenital disorder of glycosylation due to pathogenic variants of the GMPPB gene. GMPPB catalyzes GDP‐mannose synthesis, an early step in multiple glycosylation pathways, including N‐glycosylation, O‐mannosylation, C‐mannosylation, and glycosylphosphatidylinositol‐anchor formation.
Carla Damiano, Antonietta Tarallo, Vincenza Gragnaniello, Sandra Strollo, Simona Fecarotta, M. Rosaria Tuzzi, Elena Polishchuk, Sandro Montefusco, Anna Valanzano, Antonia Assunto, Nadia Minopoli, Roberto Della Casa, Roman Polishchuk, Stijn L. M. in 't Groen, Diego Luis Medina, Enrico Bertini, Rosalba Carrozzo, Julia Emmerich, Benedikt Schoser, W. W. M. Pim Pijnappel, Giancarlo Parenti   +20 more
wiley   +1 more source

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

Scientific Reports, 2023
Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown.
Florencia Epifani, Susana María Pujol Serra, Marta Llorens, Sol Balcells, Gregorio Nolasco, Mercè Bolasell, Sergio Aguilera-Albesa, Ramon Cancho Candela, José Luis Cuevas Cervera, Verónica García Sánchez, Oscar Garcia, María Concepción Miranda-Herrero, Pedro J. Moreno-Lozano, Bernabé Robles, Susana Roldán Aparicio, Ramón Velázquez Fragua, Mercedes Serrano   +16 more
doaj   +1 more source

Future large-scale water-Cherenkov detector

, 2013
MEMPHYS (MEgaton Mass PHYSics) is a proposed large-scale water-Cherenkov experiment to be performed deep underground. It is dedicated to nucleon decay searches and the detection of neutrinos from supernovae, solar, and atmospheric neutrinos, as well as ...
Agostino, L., Buizza-Avanzini, M., Dracos, M., Duchesneau, D., Marafini, M., Mezzetto, M., Mosca, L., Patzak, T., Tonazzo, A., Vassilopoulos, N.   +9 more
core   +3 more sources

Ta–Zr carbides: Synthesis advances via carbothermal reduction and defect evolution observed through transmission electron microscopy ion irradiation

Journal of the American Ceramic Society, Volume 109, Issue 1, January 2026.
Abstract The thermodynamic stability of six distinct compositions within the Zr—Ta—C ternary system is investigated in this study, marking the first report of their synthesis through carbothermic reduction in vacuum. A prolonged annealing process at 2200°C enabled high densification and phase equilibrium.
Maria Kosmidou, Wei‐Ying Chen, Erofili Kardoulaki, Najeb M. Abdul‐Jabbar   +3 more
wiley   +1 more source

Identification of Six Potential Therapeutic Targets Common to Ischemic Stroke and Vascular Dementia: Genetic Insights From an Integrated Bioinformatics Analysis

Brain and Behavior, Volume 15, Issue 12, December 2025.
This graphical abstract summarizes a multi‐layered analytical framework integrating cis‐eQTLs, UKB‐PPP proteomics, and multivariable Mendelian randomization to dissect the causal links between circulating proteins, vascular risk factors, ischemic stroke (IS), and vascular dementia (VD).
Jian Lyu, Fa Lin, Yi Liu, Yan Chai, Xiaolin Chen, Min Wang, Fumei Liu, Haiyan Xiao, Guibo Sun, Yanming Xie   +9 more
wiley   +1 more source