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Comparison Of The Therapeutic Effects Of Tri-Iodothyronine And Methylprednisolone During Early Sepsis In Laboratory Animals
(Comenius Univ, 2012)
Background: Despite major advances, the treatment of sepsis is still a challenging problem for surgeons. This study was aimed to compare the therapeutic effects of methylprednisolone and tri-iodothyronine replacement therapy ...
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 ...
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 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 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 ...
Genetic Basis Of Hyperlysinemia
(2013)
Background Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better ...
Genetic Variations In Attention Deficit Hyperactivity Disorder Subtypes And Treatment Resistant Cases
(2016)
Objective ObjectiveaaWe evaluated the distribution of alpha-2A adrenergic receptor (ADRA2A) and catechol-o-methyltransferase (COMT) single nucleotide polymorphisms (SNPs) among ADHD subtypes and other homogeneous patient ...