Results 11 to 20 of about 539 (168)
The CARMUCI Study Design: A Double-Blind, Cross-Over Sham-Controlled Trial of Indoor Air Purification in People With Cystic Fibrosis and Primary Ciliary Dyskinesia. [PDF]
ABSTRACT Background People with cystic fibrosis (pwCF) and primary ciliary dyskinesia (pwPCD) are particularly vulnerable to the harmful effects of air pollution due to the impairment of mucociliary clearance (MCC). Despite growing evidence supporting the use of indoor air purification in common lung conditions, its role in CF and PCD remains ...
Kakkoura MG +12 more
europepmc +2 more sources
YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria. [PDF]
YME1L1 dysfunction is a new type of secondary 3‐methylglutaconic aciduria, observed in two siblings with a novel homozygous YME1L1 variant. ABSTRACT 3‐methylglutaconic aciduria (3‐MGCA) is a biochemical finding in a diverse group of inherited metabolic disorders.
Demetriadou A +16 more
europepmc +2 more sources
Group A Streptococcal Invasive Infections Among Children in Cyprus [PDF]
An increase in invasive group A streptococcal (iGAS) infections among children under 15 years of age was reported in several countries between late 2022 and early 2023.
Maria Koliou +12 more
doaj +2 more sources
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics [PDF]
Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the MMACHC gene.
Theodoros Georgiou +11 more
doaj +2 more sources
Inherited metabolic disorders in Cyprus [PDF]
Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%).
Theodoros Georgiou +17 more
doaj +2 more sources
P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP): DISTRIBUTION OF PATIENTS AFFECTED BY RADS IN EUROPE [PDF]
HemaSphere, Volume 7, Issue S3, August 2023.
Solórzano González J +24 more
europepmc +2 more sources
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing [PDF]
Pompe disease is a rare metabolic myopathy caused by pathogenic variants affecting the activity of the lysosomal glycogen-degrading enzyme acid alpha-glucosidase (GAA).
Anna Malekkou +12 more
doaj +2 more sources
The purpose of this study is to examine the establishment process of EOKA within the framework of other important events concerning the history of Cyprus.
İsmail Şahin
doaj +1 more source
This article discusses how Greeks perceived Salvador Allende's overthrow, Pinochet's military dictatorship, and US interventionism in Chile. By the end of Greece's dictatorship (1967–1974), left‐wing militants emotionally identified with the ‘Chilean tragedy’ through their own experiences of military authoritarianism.
Eugenia Palieraki
wiley +1 more source

