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Investigation of alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH) levels in patients with partial biotinidase deficiency
Background: Biotinidase deficiency is a treatable metabolic disease that can be seen with various neurological
and dermatological complications. Biomarkers such as
alanine, propionylcarnitine (C3) and 3-hydroxyisovaler ...
Sepsis Tablosunda Gelen Yağ Asidi Oksidasyon Bozukluğu
Metabolik hastalıklar neden oldukları belirti ve bulgularla diğer çocukluk çağı hastalıklarıyla karışabilmektedir. Başvuru bulgularının sepsisi düşündürdüğü durumlarda ayırıcı tanıda metabolik hastalıkların da düşünülmesine ...
Fenilalanin ve Tirozin Düzeyinin Plazma ve Kuru Kan Damlası Örneklerinde Karşılaştırılması
Amaç: Doğumsal metabolik hastalıkların tanısında, aminoasid çeşitlerinin ve miktarlarının doğru analizi çok önemlidir. Fenilalanin metabolizma bozukluğu ön tanısıyla birinci basamak sağlık kuruluşlarından gönderilen olguların ...
Specificity and sensitivity of biotinidase activity measured from dried blood spot by colorimetric method
Abstract Aim: A variety of methods are used to determine biotinidase activity (BA), such as different substrates, biological samples, and analytical techniques. In this study, we aimed to discuss the specificity and ...
A case of Horner's syndrome after the surgical treatment of pulmonary hydatid cyst.
We report a case of right-sided iatrogenic Horner’s syndrome developed after surgical treatment for pulmonary hydatid cyst. This occurred in a 10 year old girl who had been diagnosed as having a ruptured lung hydatid cyst ...
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency
(2020)
Urea cycle disorders (UCD), are genetically inherited diseases that may have a poor outcome due to to profound hyperammonemia. We report the case of a baby girl diagnosed as N-acetylglutamate synthase (NAGS) deficiency. ...
Evaluation of Echocardiographic Findings of Mucopolysaccharidosis Cases
Objective: Mucopolysaccharidosis (MPS) is a lysosomal storage disease in which the degradation of glycosaminoglycans is impaired. Cardiac involvement may occur in different ways in all types of the disease. In this study, ...
Evaluation of Patients Diagnosed with Nutritional Rickets: A Single Center Study
Objective: Nutritional rickets continues to be an important health care problem. Its incidence has decreased in our country following the free vitamin D distribution that started in 2005 but it continues to stay on the ...