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The Novel Neuronal Ceroid Lipofuscinosis Gene Mfsd8 Encodes A Putative Lysosomal Transporter
(Univ Chicago Press, 2007)
The late-infantile-onset forms are the most genetically heterogeneous group among the autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid lipofuscinoses (NCLs). The Turkish variant was initially ...
The Perspective Of Pregnant Women On Pandemic Influenza Vaccine Before Pandemics
(Ortadogu Ad Pres & Publ Co, 2012)
Objective: After pregnant women were detected to have serious complications when infected with pandemic A (H1N1) virus in 2009, priority of their vaccination was accepted. Our study was planned to estimate the perspective ...
The Novel Genetic Disorder Microhydranencephaly Maps To Chromosome 16P13.3-12.1
(Univ Chicago Press, 2000)
We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used ...
The Prevalence, Serogroup Distribution And Risk Factors Of Meningococcal Carriage In Adolescents And Young Adults In Turkey
(Taylor & Francis Inc, 2017)
The serogroup epidemiology of invasive meningococcal disease (IMD), which varies considerably by geographic region and immunization schedule, changes continuously. Meningococcal carriage data are crucial for assessing IMD ...
The Results Of Fetal Echocardiography In A Tertiary Center And Comparison Of Low- And High-Risk Pregnancies For Fetal Congenital Heart Defects
(Aves Yayincilik, 2010)
Objective: Fetal echocardiography (FE) is considered for fetal, maternal or hereditary reasons in pregnants with suspect of intrauterine heart disease (IUHD). However, in few studies it was reported that most of the fetuses ...
The Prevalence Of Self-Reported Asthma And Respiratory Symptoms In Ankara, Turkey
(W B Saunders Co Ltd, 1997)
The prevalence of self-reported asthma was studied in a group of Turkish adults using the European Community Respiratory Health Survey (ECRHS) questionnaire distributed during 1994 local elections in Ankara, Turkey. A total ...
The Treat-Nmd Dmd Global Database: Analysis Of More Than 7,000 Duchenne Muscular Dystrophy Mutations
(2015)
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical ...
Thirteen Novel Nphs1 Mutations In A Large Cohort Of Children With Congenital Nephrotic Syndrome
(Oxford Univ Press, 2008)
Background. Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of ...
The Use Of The Midas Questionnaire To Assess Migraine And Tension Type Headache In Adolescents
(Ortadogu Ad Pres & Publ Co, 2012)
Objective: Headache is the most common type of pain that children and adolescents complain as well as being the most common neurological symptom. Among all school-age children, 15-20% experience headache and 3-5% of these ...
The Value Of Mean Platelet Volume In The Determination Of Community Acquired Pneumonia In Children
(2013)
Background Mean platelet volume (MPV) is a reflection of platelet size, which has been shown to correlate with platelet function and activation. The aim of this study was to evaluate whether MPV could be used for the ...
