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Evaluation And Identification Of Idua Gene Mutations In Turkish Patients With Mucopolysaccharidosis Type I
(Tubitak Scientific & Technical Research Council Turkey, 2016)
Background/aim: This study aimed to identify IDUA gene mutations in Turkish patients morphologically (phenotypic) diagnosed with MPS type I. It also sought to discuss the possible effects of detected mutations on ...
Prilocaine Versus Plain or Buffered Lidocaine for Local Anesthesia in Laceration Repair: Randomized Double-Blind Comparison
(Medicinska Naklada, 2003)
Aim. To compare the effectiveness of 2% prilocaine plain solution, 1% lidocaine hydrochloride, and 1% buffered lidocaine in local anesthesia and pain reduction during injection in laceration repair. Methods. A double-blind ...
Eular/Pres Endorsed Consensus Criteria For The Classification Of Childhood Vasculitides
(B M J Publishing Group, 2006)
Background: There has been a lack of appropriate classification criteria for vasculitis in children. Objective: To develop a widely accepted general classification for the vasculitides observed in children and specific and ...
Genetic Screening In Adolescents With Steroid-Resistant Nephrotic Syndrome
(Elsevier Science Inc, 2013)
Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent ...
Genetic Spectrum Of Hereditary Neuropathies With Onset In The First Year Of Life
(2011)
Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine–Sottas neuropathy starting in ...
Genetic Diagnosis By Whole Exome Capture And Massively Parallel Dna Sequencing
(Natl Acad Sciences, 2009)
Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete ...
Genetic Landscape Of Congenital Myasthenic Syndromes From Turkey: Novel Mutations And Clinical Insights
(Sage Publications Inc, 2017)
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the ...
Genetic Linkage Study Of Familial Mediterranean Fever (Fmf) To 16P13.3 And Evidence For Genetic Heterogeneity In The Turkish Population
(British Med Journal Publ Group, 1997)
Familial Mediterranean fever (FMF) is an autosomal recessive condition that is almost entirely restricted to the non-Askhenazi Jews, Arabs, Armenians, and Turks. Genetic linkage study of a large group of non-Turkish families ...
Genetic Basis Of Cystinosis In Turkish Patients: A Single-Center Experience
(Springer, 2012)
We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7-29 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. Cystinosis was diagnosed at age 1 month ...