Search Results - "Biberoğlu, Gursel"

Asymmetrical dimethylarginine level in atrial fibrillation by Cengel, Atiye, Sahinarslan, Asife, Biberoğlu, Gursel, Hasanoğlu, Alev, Tavil, Yusuf, Tulmaç, Murat, Ozdemir, Murat

“…Objective - Atrial fibrillation (AF) is known to be related with increased risk of thromboembolic events. Asymmetrical dimethylarginine (ADMA), which is an…”
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Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy by Kilic, Ayse, Emecen Sanli, Merve, Ozsaydı Aktasoglu, Ekin, Gokalp, Sabire, Biberoğlu, Gürsel, Inci, Aslı, Okur, Ilyas, Suheyl Ezgu, Fatih, Tumer, Leyla

“…Gaucher disease (GD) is a lysosomal storage disease caused by glucocerebrosidase (GCase) enzyme deficiency. Gaucher cells transformed from the macrophages by…”
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Autism: Screening of inborn errors of metabolism and unexpected results by İnci, Aslı, Özaslan, Ahmet, Okur, İlyas, Biberoğlu, Gürsel, Güney, Esra, Ezgü, Fatih Süheyl, Tümer, Leyla, İşeri, Elvan

“…In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented with only autism, without any other findings, to suggest…”
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Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series by Ä°nci, Asli, Okur, Ä°lyas, Tümer, Leyla, BiberoÄlu, Gürsel, üktem, Murat, Ezgü, Fatih

“…Abstract Background The objective of this study was to describe clinical manifestations and events of patients with mucopolysaccharidosis (MPS) VI in Turkey…”
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Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability by İnci, Aslı, Kılıç Yıldırım, Gonca, Cengiz Ergin, Filiz Başak, Sarı, Sinan, Eğritaş Gürkan, Ödül, Okur, İlyas, Biberoğlu, Gürsel, Bükülmez, Ayşegül, Ezgü, Fatih Süheyl, Dalgıç, Buket, Tümer, Leyla

“…To reveal the different clinical presentations of liver glycogen storage disease type IX (GSD IX), which is a clinically and genetically heterogeneous type of…”
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A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase by Kılıç, Mustafa, Kasapkara, Çiğdem Seher, Kılavuz, Sebile, Mungan, Neslihan Önenli, Biberoğlu, Gürsel

“…Gangliosidoses (GM1 and GM2 gangliosidosis) are rare, autosomal recessive progressive neurodegenerative lysosomal storage disorders caused by defects in the…”
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Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features by İnci, Aslı, Cengiz, Başak, Biberoğlu, Gürsel, Okur, İlyas, Arhan, Ebru, Öner, Ali Yusuf, Kasapkara, Çiğdem Seher, Küçükçongar, Aynur, Tümer, Leyla, Ezgu, Fatih

“…The pathophysiology of congenital defects of glycosylation (CDG) is complex and the diagnosis has been a challenge because of the overlapping clinical signs…”
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The Relationship between Inflammation and Serum Estrogen, Testosterone, and Dhea-S Levels in Obstructive Coronary Artery Disease by Karaaslan, Özge Çakmak, Ünlü, Serkan, Topal, Salih, Biberoğlu, Gürsel, Biberoğlu, Kutay, Çengel, Atiye

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The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis by İnci, Aslı, Aktaş, Emine, Cengiz Ergin, Filiz Başak, Okur, İlyas, Biberoğlu, Gürsel, Ezgü, Fatih Süheyl, Tümer, Leyla

“…Background The ketogenic diet (KD) is a low‐carbohydrate, high‐fat diet that has been used as an effective nonpharmacological treatment in many neurological…”
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Hypophosphatasia: is it an underdiagnosed disease even by expert physicians? by İnci, Aslı, Ergin, Filiz Başak Cengiz, Yüce, Burcu Topcu, Çiftçi, Bahattin, Demir, Ercan, Buyan, Necla, Okur, İlyas, Biberoğlu, Gürsel, Öktem, Rıdvan Murat, Tümer, Leyla, Ezgü, Fatih Süheyl

“…Introduction Hypophosphatasia (HPP) is caused by mutations in the ALPL that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (ALP). Clinical…”
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Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease? by Kızıltunç, Emrullah, Gökalp, Sabire, Biberoğlu, Gürsel, Yalçın, Yakup, Cihan, Burcu, Öktem, Rıdvan M, İnci, Aslı, Tümer, Leyla, Yalçın, Mehmet R, Abacı, Adnan

“…Background Lipid metabolism is considerably complex and there can be many critical steps in atherogenesis. The association between lysosomal acid lipase (LAL)…”
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A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency by Olgac, Asburce, Kasapkara, Çiğdem S, Kilic, Mustafa, Emine Derinkuyu, Betul, Azapagasi, Ebru, Kesici, Selman, Biberoğlu, Gürsel, Ozyazici, Ahmet, Karaca, Meryem, Haberle, Johannes

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High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease by Koca, Serhat, Tümer, Leyla, Okur, İlyas, Erten, Yasemin, Bakkaloğlu, Sevcan, Biberoğlu, Gürsel, Kasapkara, Çiğdem, Küçükçongar, Aynur, Dalgıç, Buket, Oktar, Suna Özhan, Öner, Yusuf, Atalay, Tuba, Cemri, Mustafa, Çiftçi, Bahattin, Topçu, Burcu, Hasanoğlu, Alev, Ezgü, Fatih

“…Fabry disease results from deficiency of the lysosomal enzyme alpha-galactosidase A. The families of 11 index cases were screened by enzyme and molecular…”
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The Relationship between Inflammation and Serum Estrogen, Testosterone, and DHEA-S Levels in Obstructive Coronary Artery Disease by Çakmak Karaaslan,Özge, Ünlü,Serkan, Topal,Salih, Biberoğlu,Gürsel, Biberoğlu,Kutay, Çengel,Atiye

“…Objectives: The relationship between sex hormones such as estrogen, testosteron and coronary artery disease (CAD) has been found to be controversial in various…”
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An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochon- drial DNA depletion syndrome with a novel mutation by İnci, Aslı, Okur, İlyas, Demir, Ercan, Biberoğlu, Gürsel, Tümer, Leyla, Serdaroğlu, Ayşe, Ezgü, Fatih Süheyl

“…Ribonucleotide-diphosphate reductase subunit M2B(RRM2B)-related mitochondrial disease is one of the ultra-rare mitochondrial depletion syndromes. A-2-months of…”
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Ultra-Rare Disorder in a Young Girl with Lipodystrophy: Analbuminemia by İnci, Aslı, Arslan, Burak, Okur, İlyas, Biberoğlu, Gürsel, Şanlı, Merve Emecan, Aktaşoğlu, Ekin, Kılıç, Ayşe, Tümer, Leyla, Ezgü, Fatih Süheyl

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“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages by Olgac, Asburce, Tumer, Leyla, Ceylaner, Serdar, Biberoglu, Gursel, Hasanoglu, Alev

“…Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there…”
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Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing by Ezgu, Fatih, Çiftci, Bahattin, Topçu, Burcu, Adıyaman, Gülcan, Gökmenoğlu, Hatice, Küçükçongar, Aynur, Kasapkara, Çiğdem, Biberoğlu, Gürsel, Tümer, Leyla, Hasanoğlu, Alev

“…Early diagnosis for metabolic encephalopathy caused by inborn errors of metabolism is very important for the initiation of early treatment and also for…”
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Analysis of acylcarnitine levels by tandem mass spectrometry in epileptic children receiving valproate and oxcarbazepine by Cansu, Ali, Serdaroglu, Ayse, Biberoglu, Gursel, Tumer, Leyla, Hirfanoglu, Tugba Luleci, Ezgu, Fatih Suheyl, Hasanoglu, Alev

“…This prospective study was designed to investigate whether or not monotherapy with sodium valproate (VPA) or oxcarbazepine (OXC) affects plasma levels of fatty…”
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The effect of hypothyroidism, hyperthyroidism, and their treatment on parameters of oxidative stress and antioxidant status by Erdamar, Hüsamettin, Demirci, Hüseyin, Yaman, Halil, Erbil, M Kemal, Yakar, Tolga, Sancak, Banu, Elbeg, Sehri, Biberoğlu, Gürsel, Yetkin, Ilhan

“…Free radical-mediated oxidative stress has been implicated in the etiopathogenesis of several autoimmune disorders. Also, there is growing evidence supporting…”
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