Search Results - "Gülden, Fatma"

Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis by Kozanoğlu, Tuğba, Balcı, Mehmet Cihan, Karaca, Meryem, Gökçay, Gülden Fatma

“…Maple syrup urine disease (MSUD) is an inborn metabolic disease. The nutritional treatment with restricted intake of branched chain amino acids and prevention…”
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Oxford nanopore sequencing-based assay for BTD gene screening: Design, clinical validation, and variant frequency assessment in the Turkish population by Kazan, Hasan Hüseyin, Karaca, Meryem, Akan, Gökçe, Özgen, Özge, Tuncel, Gülten, Özketen, Ahmet Çağlar, Balcı, Mehmet Cihan, Körbeyli, Hüseyin Kutay, Atalar, Fatmahan, Gökçay, Gülden Fatma

“…Amplification-based ONT sequencing using two primer pools and long PCR results in fast, cheap and accurate screening of BTD gene. [Display omitted] •Molecular…”
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The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG) by Ozgen, Ozge, Güdek Kılıç, Fatma, Gedikbaşı, Asuman, Balcı, Mehmet Cihan, Karaca, Meryem, Durmuş, Aslı, Tutu, Belkıs, Körbeyli, Hüseyin Kutay, Atalar, Fatmahan, Gökçay, Gülden Fatma

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Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders by Balci, Mehmet Cihan, Karaca, Meryem, Ergul, Yakup, Omeroglu, Rukiye Eker, Demirkol, Mubeccel, Gokcay, Gulden Fatma

“…Background Mitochondrial fatty acid oxidation disorders (FAODs) cause impairment in energy metabolism and can lead to a spectrum of cardiac pathologies…”
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Molecular genetics of maple syrup urine disease in the Turkish population by Gorzelany, Kerstin, Dursun, Ali, Coşkun, Turgay, Kalkanoğlu-Sivri, Serap H, Gökçay, Gülden Fatma, Demirkol, Mübeccel, Feyen, Oliver, Wendel, Udo

“…In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1alpha, E1beta and E2 subunits of…”
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Challenging Childhood Obesity: The Influence of Education and Close Monitoring on Obesity-Related Behaviors by Sunnetci Silistre, Eda, Yesil, Alihan, Kozanoglu, Tugba, Balci, Mehmet Cihan, Karaca, Meryem, Gokcay, Gulden Fatma

“…We aimed to evaluate the role of nutrition and behavior education intervention in the prevention and treatment of childhood obesity by comparing changes in…”
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Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases by Gedikbasi, Asuman, Toksoy, Guven, Karaca, Meryem, Gulec, Cagri, Balci, Mehmet Cihan, Gunes, Dilek, Gunes, Seda, Aslanger, Ayca Dilruba, Unverengil, Gokcen, Karaman, Birsen, Basaran, Seher, Demirkol, Mubeccel, Gokcay, Gulden Fatma, Uyguner, Zehra Oya

“…Mitochondrial diseases are the most common group of inherited metabolic disorders, causing difficulties in definite diagnosis due to clinical and genetic…”
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A different perspective into clinical symptoms in CPT I deficiency by Balci, Mehmet Cihan, Karaca, Meryem, Selamioglu, Arzu, Korbeyli, Huseyin Kutay, Durmus, Asli, Ak, Belkis, Kozanoglu, Tugba, Gokcay, Gulden Fatma

“…Carnitine palmitoyltransferase I (CPT I) deficiency is an autosomal recessive disorder causing long-chain fatty acid oxidation defect, characterized by…”
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Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective by Arslan, Nur, Coker, Mahmut, Gokcay, Gulden Fatma, Kiykim, Ertugrul, Onenli Mungan, Halise Neslihan, Ezgu, Fatih

“…This review by a panel of pediatric metabolic disease specialists aimed to provide a practical and implementable guidance document to assist clinicians in best…”
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Experiences of mothers caring for children with rare diseases in Turkey by Bayraktar, Sema, Aydın, Ayfer, Karaca, Meryem, Balcı, Mehmet Cihan, Gökçay, Gülden Fatma, Göktepe, Neval

“…Rare diseases (RDs), important for children and families, have been poorly studied in Turkey. This study aimed to describe the experiences and needs of mothers…”
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Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature by Selamioğlu, Arzu, Karaca, Meryem, Balcı, Mehmet Cihan, Körbeyli, Hüseyin Kutay, Durmuş, Aslı, Yıldız, Edibe Pembegül, Karaman, Serap, Gökçay, Gülden Fatma

“…Introduction: Chronic haemolytic anaemia, increased susceptibility to infections, cardiomyopathy, neurodegeneration, and death in early childhood are the…”
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Türk Kadınlarında Metabolik Sendromu Öngörmede Antropometrik Ölçümlerin Etkinliği ve Kesim Noktaları by Efe, Fatma Kaplan, Dönderici, Ömer, Gülden, Fatma, Demircan, Sultan Keskin

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Special low protein foods for phenylketonuria in Turkey: An examination of their nutritional composition compared to regular food by Arslan, Ezgi, Gokcay, Gulden Fatma

“…Background: Special low protein foods (SLPF) that are phenylalanine (Phe)-free or have a low Phe content are an integral part of PKU diet therapy. Aim: The aim…”
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Türk kadınlarında metabolik sendromu öngörmede antropometrik ölçümlerin etkinliği ve kesim noktaları by Fatma Gülden, Ömer Dönderici, Fatma Kaplan Efe, Sultan Keskin Demircan

“…Amaç: Metabolik sendromun MS öngörülmesinde, Türk kadın toplumu için uygun olan antropometrik yöntemlerin ve kesim noktalarının incelenmesi. Gereç ve Yöntem:…”
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Investigation of material modeling in fluid–structure interaction analysis of an idealized three-layered abdominal aorta: aneurysm initiation and fully developed aneurysms by Simsek, Fatma Gulden, Kwon, Young W.

“…Different material models for an idealized three-layered abdominal aorta are compared using computational techniques to study aneurysm initiation and fully…”
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Sağlığın desteklenmesi ve sürdürülebilir beslenme için alternatif bir kaynak: Alg (yosunlar) by Muslu,Mücahit, Gökçay,Gülden Fatma

“…Nüfusun artmasıyla birlikte beslenmeye bağlı problemlerin de artacağı düşünülmekte ve alternatif besin kaynakları aranmaktadır. Algler büyük biyokütleleri ve…”
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Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature by Selamioğlu, Arzu, Karaca, Meryem, Balcı, Mehmet Cihan, Körbeyli, Hüseyin Kutay, Durmuş, Aslı, Yıldız, Edibe Pembegül, Karaman, Serap, Gökçay, Gülden Fatma

“…IntroductionChronic haemolytic anaemia, increased susceptibility to infections, cardiomyopathy, neurodegeneration, and death in early childhood are the…”
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The prevalence and associated risk factors of detectable renal morphological abnormalities in acromegaly by Bostan, Hayri, Kizilgul, Muhammed, Calapkulu, Murat, Kalkisim, Hatice Kozan, Topcu, Fatma Betul Gulden, Gul, Umran, Duger, Hakan, Hepsen, Sema, Ucan, Bekir, Cakal, Erman

“…Purpose The aim of this study was to investigate the prevalence of simple renal cysts (SRCs) and kidney stone disease (KSD) together with laboratory data in…”
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Characterization of graphene oxide and reduced graphene oxide coating on gold electrodes by impedance spectroscopy by Gulden Simsek, Fatma, Garipcan, Bora, Ulgen, Yekta

“…In this study, the impedance spectroscopy is used as a detection tool in order to characterize graphene oxide and reduced graphene oxide coating on the gold…”
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