Results 71 to 80 of about 1,755 (160)
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 +10 more
doaj +1 more source
Journal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 3, Page 660-671, March 2026.Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Sharon Wolfson +8 more
wiley +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
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 +16 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 +4 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids.
Anna Bogdańska +6 more
doaj +1 more source
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 +4 more
wiley +1 more source
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 +3 more
doaj +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 +20 more
wiley +1 more source
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 +3 more
wiley +1 more source