Search Results - "Zeybek, Çigdem"

Newborn Screening: From the Past to the Future by Zeybek, Ayşe Çiğdem Aktuğlu

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Inborn errors of metabolism and coronavirus disease 2019: Evaluation of the metabolic outcome by Zubarioglu, Tanyel, Hopurcuoglu, Duhan, Ahmadzada, Saffa, Uzunyayla‐Inci, Gözde, Cansever, Mehmet Serif, Kiykim, Ertugrul, Aktuglu‐Zeybek, Cigdem

“…Background Infectious diseases can result in a catabolic state and possibly trigger an acute metabolic decompensation in inborn errors of metabolism (IEM),…”
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An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies by Zübarioğlu, Tanyel, Kıykım, Ertuğrul, Aktuğlu-Zeybek, Çiğdem

“…Porphyrias are inborn errors of heme biosynthesis pathway that result in neurovisceral and/ or cutaneous manifestations which occur with episodic attacks,…”
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The Role of Supportive Treatment in the Management of Hyperammonemia in Neonates and Infants by Demirkol, Demet, Aktuğlu Zeybek, Çiğdem, Karacabey, Burçin Nazlı, Cesur, Yaşar, Ataman, Yasemin, Soysal, Elif

“…The objective of this study is to investigate the efficacy of continuous renal replacement therapy (CRRT), mainly continuous venovenous hemodiafiltration…”
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Capillary electrophoresis with capacitively coupled contactless conductivity detection for the determination of urinary ethylmalonic acid for the diagnosis of ethylmalonic aciduria by Özçelik, Sirun, Öztekin, Nevin, Kıykım, Ertuğrul, Cansever, Mehmet Şerif, Aktuğlu‐Zeybek, Ayşe Çiğdem

“…Ethylmalonic acid is a metabolic organic acid, and its accumulation in urine is diagnostic of ethylmalonic aciduria. In this study, a simple and fast method…”
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Separation and quantification of the urinary enantiomers of 2‐hydroxyglutaric acid by capillary electrophoresis with capacitively coupled contactless conductivity detection: Application to the diagnosis of D‐ and L‐2‐hydroxyglutaric aciduria by Cansever, M. Şerif, Öztekin, Nevin, Kıykım, Ertuğrul, Zübarioğlu, Tanyel, Aktuğlu Zeybek, Ayşe Çiğdem

“…2‐hydroxyglutaric aciduria is an inherited neurometabolic disorder with two major types: D‐2‐hydroxyglutaric aciduria and L‐2‐hydroxyglutaric aciduria. An easy…”
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Differences in the gut microbiota of healthy children and those with type 1 diabetes by Soyucen, Erdogan, Gulcan, Aynur, Aktuglu-Zeybek, Ayse Cigdem, Onal, Hasan, Kiykim, Ertugrul, Aydin, Ahmet

“…Background Intestinal barriers, intestinal flora, and mucosal immunity are the main factors responsible for the development of various allergic and autoimmune…”
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Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11 by Uzunyayla-Inci, Gozde, Kiykim, Ertugrul, Zubarioglu, Tanyel, Yeşil, Gözde, AKTUGLU ZEYBEK, CIGDEM

“…Background: Autism spectrum disorder (ASD) is used to describe individuals with a specific combination of disorders in social communication and repetitive…”
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Safety of COVID‐19 vaccines in children with inborn errors of metabolism in terms of developing metabolic decompensation by Zubarioglu, Tanyel, Oral‐Cebeci, Sinem, Hopurcuoglu, Duhan, Uygur, Esma, Ahmadzada, Saffa, Uzunyayla‐Inci, Gözde, Oge‐Enver, Ece, Akca, Sedanur, Aghalarov, Mirsaid, Yilmaz, Gizem, Kiykim, Ertugrul, Aktuglu‐Zeybek, Cigdem

“…Aim There are no recommended guidelines or clinical studies on safety of COVID‐19 vaccines in patients with inborn errors of metabolism (IEMs). Here, we aimed…”
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Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey by Karaca Sahin, Merve, Aktuglu Zeybek, Ayse Cigdem, Zubarioglu, Tanyel, Cansever, Mehmet Serif, Kıykım, Ertugrul

“…Phenylketonuria is an inherited metabolic disorder that leads to neurobehavioral dysfunction. The main treatment is a low-phenylalanine diet and/or the…”
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Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency by van Rijt, Willemijn J., Jager, Emmalie A., Allersma, Derk P., Aktuğlu Zeybek, A. Çiğdem, Bhattacharya, Kaustuv, Debray, François-Guillaume, Ellaway, Carolyn J., Gautschi, Matthias, Geraghty, Michael T., Gil-Ortega, David, Larson, Austin A., Moore, Francesca, Morava, Eva, Morris, Andrew A., Oishi, Kimihiko, Schiff, Manuel, Scholl-Bürgi, Sabine, Tchan, Michel C., Vockley, Jerry, Witters, Peter, Wortmann, Saskia B., van Spronsen, Francjan, Van Hove, Johan L. K., Derks, Terry G. J.

“…Purpose Multiple acyl-CoA dehydrogenase deficiency (MADD) is a life-threatening, ultrarare inborn error of metabolism. Case reports described successful…”
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Movement disorders in the early-diagnosed cerebrotendinous xanthomatosis: An electrophysiological study by Aktuglu Zeybek, Cigdem, Gunduz, Aysegul, Enver, Ece Oge, Tezen, Didem, Kiykim, Ertugrul, Kızıltan, Meral E.

“…•In patients with early-diagnosed CTX, myoclonus, with a probable subcortical-basal ganglia origin, is common.•Our study confirms that myoclonus precedes the…”
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Analysis of Biotinidase Activity in Serum by Digital Imaging Colorimetry Detection by Destanoğlu, Orhan, Cansever, M. Şerif, İşat, Esra, Zübarioğlu, Tanyel, Aktuğlu Zeybek, A. Çiğdem, Kıykım, Ertuğrul

“…Biotinidase deficiency (BD) is an autosomal recessive inherited disorder of biotin recycling that leads to neurological and cutaneous consequences if left…”
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Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals by Zubarioglu, Tanyel, Kıykım, Ertuğrul, Köse, Engin, Eminoğlu, Fatma Tuba, Teke Kısa, Pelin, Balcı, Mehmet Cihan, Özer, Işıl, İnci, Aslı, Çilesiz, Kübra, Canda, Ebru, Yazıcı, Havva, Öztürk-Hişmi, Burcu, Bulut, Fatma Derya, Dorum, Sevil, Akgun, Abdurrahman, Yalçın-Çakmaklı, Gül, Kılıç-Yıldırım, Gonca, Soyuçen, Erdoğan, Akçalı, Aylin, Güneş, Dilek, Durmuş, Aslı, Gündüz, Ayşegül, Kasapkara, Çiğdem Seher, Göksoy, Emine, Akar, Halil Tuna, Ersoy, Melike, Erdöl, Şahin, Yıldız, Yılmaz, Hanağası, Haşmet Ayhan, Arslan, Nur, Aktuğlu-Zeybek, Çiğdem

“…Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this…”
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Emerging trends in pediatric candidemia: mapping the rise in Candida parapsilosis incidence and antifungal resistance in Turkey by Önal, Pınar, Aygün, Fatma Deniz, Sever, Gözde Apaydın, Eren, Beste Akdeniz, Kes, Gülşen, Aygün, Fatih, Zübarioğlu, Tanyel, Beşer, Ömer Faruk, Ocak, Süheyla, Yazgan, Zeynep, Zeybek, Çiğdem Aktuglu, Aygün, Gökhan, Camcıoğlu, Yıldız, Çokuğraş, Haluk

“…Candidemia is emerging as a significant concern in children, particularly among those with underlying conditions like malignancies or prematurity. The…”
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Hereditary tyrosinemia type 1 in Turkey: Twenty year single-center experience by Aktuglu Zeybek, A Cigdem, Kiykim, Ertugrul, Soyucen, Erdogan, Cansever, Serif, Altay, Suheyla, Zubarioglu, Tanyel, Erkan, Tulay, Aydin, Ahmet

“…Background Hereditary tyrosinemia type 1(HT1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated. Despite…”
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Evaluation of plasma carnitine status in patients diagnosed with juvenile idiopathic arthritis by Aktuğlu Zeybek, Ayşe Çiğdem, Kıykım, Ertuğrul, Barut, Kenan, Zübarioğlu, Tanyel, Cansever, Mehmet Şerif, Kasapçopur, Özgür

“…Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in childhood and manifests mainly as autoinflammation of the joints and other tissues…”
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Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening by Tin, Oğuzhan, Zübarioğlu, Tanyel, Cansever, Mehmet Şerif, Kıykım, Ertuğrul, Aktuğlu-Zeybek, Çiğdem

“…Pathologic results in expanded metabolic screening tests may be due to the medications, inappropriate sampling methods, or the maternal originated inborn…”
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Altered immune response in organic acidemia by Altun, Ilayda, Kiykim, Ayca, Zubarioglu, Tanyel, Burtecene, Nihan, Hopurcuoglu, Duhan, Topcu, Birol, Cansever, Mehmet Serif, Kiykim, Ertugrul, Cokugras, Haluk Cezmi, Aktuglu Zeybek, Ayse Cigdem

“…Background Most patients with organic acidemia suffer from recurrent infections. Although neutropenia has been reported in multiple studies, other components…”
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Treatment of maple syrup urine disease with high flow hemodialysis in a neonate by Aygün, Fatih, Kıykım, Ertuğrul, Aktuğlu-Zeybek, Çiğdem, Zubarioğlu, Tanyel, Cam, Halit

“…Aygün F, Kıykım E, Aktuğlu-Zeybek Ç, Zubarioğlu T, Cam H. Treatment of maple syrup urine disease with high flow hemodialysis in a neonate. Turk J Pediatr 2019;…”
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