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Article
The IL-1RN and IL-4 gene polymorphisms are potential genetic markers of susceptibility to bladder cancer: a case–control study
We investigated the relationship between the distribution of the IL-1RN, TNF-β and IL-4 polymorphism and the clinical features of bladder cancer.
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Article
Spectrum of Brevundimonas vesicularis infections in neonatal period: a case series at a tertiary referral center
To report infections caused by Brevundimonas vesicularis and the treatment regimens administered based on antibiotic studies of this Gram-negative bacterium in the neonatal period.
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Article
1279 A Nested Case-Control Study for Risk Factors of Infantile Colic
Backgroud and aims: To analyse infantile (birth characteristics, feeding type) and environmental (maternal smoking, nutrition and psychological status, mother-child bonding, family structure, support to mother...
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Article
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency
The pyruvate dehydrogenase (PDH) complex is a mitochondrial multienzyme that catalyses the irreversible oxidative decarboxylation of pyruvate to acetyl-CoA. We report four novel PDHA1 mutations in patients with p...
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Article
Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?
The aim of this study was to compare the level of maternal knowledge and the blood phenylalanine (Phe) control in phenylketonuria (PKU; OMIM 261600). The study was conducted on 144 children (81 boys, 63 girls)...
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Article
Neurocutaneous melanosis associated with Dandy-Walker malformation
Neurocutaneous melanosis is an uncommon congenital disorder consisting of benign or malignant melanocytic tumors of the leptomeninges with large or numerous cutaneous congenital melanocytic nevi. The Dandy-Wal...
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Article
Maple syrup urine disease: Mutation analysis in Turkish patients
Maple syrup urine disease (MSUD), the most frequently occurring organic acidaemia in Turkey, is caused by a deficiency of the activity of branched-chain keto acid dehydrogenase enzyme (BCKAD) complex. Mutation...
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Article
Mutation analysis in Turkish patients with hereditary fructose intolerance
Thirteen Turkish patients with hereditary fructose intolerance (HFI) were screened for the three common mutations, A149P, A174D and N334K, in the aldolase B gene that have been detected frequently in European ...
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Article
Neuroleptic malignant syndrome in a patient with citrullinaemia
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Article
Incisional healing in rats treated with diethyl maleate
Diethyl maleate (DEM) which binds and thus depletes tissue glutathione levels was used to aggravate the injury and to determine its effect on incisional healing. A 5 cm dorsal midline skin incision was perform...
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Article
Neutral lipid storage disease co-existing with ichthyosiform dermatosis