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View article: Determination of Biotinidase Enzyme Levels in Umbilical Cord Blood and Comparisons with Dried Blood Spot Testing in Newborns
Determination of Biotinidase Enzyme Levels in Umbilical Cord Blood and Comparisons with Dried Blood Spot Testing in Newborns Open
Aim: Biotinidase deficiency (BD) is an autosomal recessive inherited metabolic disorder caused by enzymatic deficiency. Untreated patients may develop neurologic symptoms, hearing loss, optic atrophy, skin eruptions and/or alopecia. Althou…
View article: Impact of individualized and supervised strength training on muscle physiology, metabolic control and quality of life in metabolic myopathies
Impact of individualized and supervised strength training on muscle physiology, metabolic control and quality of life in metabolic myopathies Open
Metabolic myopathies impair muscle energy metabolism. Exercise is challenging, as patients may suffer from rhabdomyolysis attacks. This study investigated long-term effects of an individualized strength training program. Eighteen patients …
View article: Determination of Guanidinoacetic Acid in Urine by HPLC-FLD Method
Determination of Guanidinoacetic Acid in Urine by HPLC-FLD Method Open
Creatine deficiency syndromes are newly recognized inherited metabolic disorders. Creatine is classified into three groups according to the synthesis steps: guanidinoacetate N-methyl transferase (GAMT) deficiency, arginine-glycine amidinot…
View article: Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease
Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease Open
From the onset of the disease, patients with Fabry disease exhibited elevated levels of inflammation and immune activation. Furthermore, inflammation and immune activation markers can be used as early disease biomarkers.
View article: Analysis of Biotinidase Activity in Serum by Digital Imaging Colorimetry Detection
Analysis of Biotinidase Activity in Serum by Digital Imaging Colorimetry Detection Open
Biotinidase deficiency (BD) is an autosomal recessive inherited disorder of biotin recycling that leads to neurological and cutaneous consequences if left untreated. The clinical features of BD can be ameliorated or prevented by the admini…
View article: The structure and age determination of the writings written with ballpoint pen
The structure and age determination of the writings written with ballpoint pen Open
Ink age determination is the determination and interpretation of the structure of the ink on a document by using advanced analytical methods. Over time, the dyestuff in the structure of the ink go through demethylation, solvents get evapor…
View article: Determining malpractice by ink aging method
Determining malpractice by ink aging method Open
Document forgery is one of the most common crime types. One of the methods for detection of this type of crime is the determination of the age of the ink. The time difference between the suspected articles on the document can be easily det…