Results 21 to 30 of about 34,294 (224)
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 +7 more
doaj +1 more source
Impact of c-di-GMP on the Extracellular Proteome of Rhizobium etli
Biology, 2022 Extracellular matrix components of bacterial biofilms include biopolymers such as polysaccharides, nucleic acids and proteins. Similar to polysaccharides, the secretion of adhesins and other matrix proteins can be regulated by the second messenger cyclic
María J. Lorite +8 more
doaj +1 more source
Penalty and reward contracts between a manufacturer and its logistics service provider [PDF]
, 2016 Contracts are used to coordinate disparate but interdependent members of the supply chain. Conflicting objectives of these members and lack of coordination among the members lead to inefficiencies in matching supply with demand.
Aktas, Emel, Ulengin, Fusun
core +4 more sources
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 +10 more
doaj +1 more source
High levels of cyclic-di-GMP in plant-associated Pseudomonas correlate with evasion of plant immunity [PDF]
, 2016 The plant innate immune system employs plasma membrane-localized receptors that specifically perceive pathogen/microbe-associated molecular patterns (PAMPs/MAMPs).
Aragon +68 more
core +1 more source
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. +14 more
openaire +9 more sources
Categories of holomorphic line bundles on higher dimensional noncommutative complex tori [PDF]
, 2005 We construct explicitly noncommutative deformations of categories of holomorphic line bundles over higher dimensional tori. Our basic tools are Heisenberg modules over noncommutative tori and complex/holomorphic structures on them introduced by A ...
Hiroshige Kajiura +3 more
core +3 more sources
Exponential stability of stochastic evolution equations driven by small fractional Brownian motion with Hurst parameter in $(1/2,1)$ [PDF]
, 2017 This paper addresses the exponential stability of the trivial solution of some types of evolution equations driven by H\"older continuous functions with H\"older index greater than $1/2$.
Duc, Luu Hoang +3 more
core +2 more sources
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review. [PDF]
Acta PaediatrABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Cagol R +6 more
europepmc +2 more sources