Search Results - "Okur, Ilyas"

A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B by Muschol, Nicole, Koehn, Anja, von Cossel, Katharina, Okur, Ilyas, Ezgu, Fatih, Harmatz, Paul, de Castro Lopez, Maria J, Couce, Maria Luz, Lin, Shuan-Pei, Batzios, Spyros, Cleary, Maureen, Solano, Martha, Nestrasil, Igor, Kaufman, Brian, Shaywitz, Adam J, Maricich, Stephen M, Kuca, Bernice, Kovalchin, Joseph, Zanelli, Eric

“…BackgroundSanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to…”
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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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Monocarboxylate Transporter 1 Deficiency and Ketone Utilization by van Hasselt, Peter M, Ferdinandusse, Sacha, Monroe, Glen R, Ruiter, Jos P.N, Turkenburg, Marjolein, Geerlings, Maartje J, Duran, Karen, Harakalova, Magdalena, van der Zwaag, Bert, Monavari, Ardeshir A, Okur, Ilyas, Sharrard, Mark J, Cleary, Maureen, O’Connell, Nuala, Walker, Valerie, Rubio-Gozalbo, M. Estela, de Vries, Maaike C, Visser, Gepke, Houwen, Roderick H.J, van der Smagt, Jasper J, Verhoeven-Duif, Nanda M, Wanders, Ronald J.A, van Haaften, Gijs

“…Ketoacidosis is a potentially lethal condition caused by the imbalance between hepatic production and extrahepatic utilization of ketone bodies. We performed…”
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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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The Evaluation of Skeletal Manifestations in Patients with Gaucher Disease by Kasapkara, Cigdem Seher, Olgac, Asburce, Okur, Ilyas, Ezgu, Fatih Suheyl, Tumer, Leyla

“…Aim: Gaucher disease (GD) is the most prevalent hereditary lysosomal storage disorder, affecting multiple organ systems. It is characterized by a deficiency of…”
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Quality of life in children treated with restrictive diet for inherited metabolic disease by Eminoglu, Tuba F., Soysal, Sebnem A., Tumer, Leyla, Okur, Ilyas, Hasanoglu, Alev

“…Background The aim of this study was to investigate the quality of life (QoL) of a group of patients with inherited metabolic diseases (IMD) who were treated…”
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The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations by Di Leo, Enza, PhD, Eminoglu, Tuba, MD, Magnolo, Lucia, PhD, Bolkent, Musa Gökalp, MD, Tümer, Leyla, MD, Okur, Ilyas, MD, Tarugi, Patrizia, PhD

“…Abstract Familial hypobetalipoproteinemia is a codominant disorder characterized by low plasma levels of low-density lipoprotein cholesterol and apolipoprotein…”
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Association Between Soluble CD40 Ligand and Hypercholesterolemia in Children and Adolescents by Küçükçongar Yavaş, Aynur, Eminoğlu, Tuba Fatma, Okur, İlyas, Aral, Arzu, Hasanoğlu, Alev, Tümer, Leyla

“…Aim: Coronary heart disease is one of the most common causes of death around the world. The pathological process of coronary heart disease like atherosclerosis…”
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CDH13 and LPHN3 Gene Polymorphisms in Attention-Deficit/Hyperactivity Disorder: Their Relation to Clinical Characteristics by Özaslan, Ahmet, Güney, Esra, Ergün, Mehmet Ali, Okur, İlyas, Yapar, Dilek

“…Genetic factors play a major role in the etiopathogenesis of attention-deficit/hyperactivity disorder (ADHD). In this study, we aimed to investigate the…”
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Correction: Intestinal microbiota composition of children with glycogen storage Type I patients by Gokalp, Sabire, Dinleyici, Ener Cagri, Muluk, Cansu, Inci, Asli, Aktas, Emine, Okur, Ilyas, Ezgu, Fatih, Tumer, Leyla

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Nutritional Status of Syrian Refugees in Early Adolescence Living in Turkey by Pehlivanturk-Kizilkan, Melis, Ozmert, Elif N., Derman, Orhan, Okur, İlyas, Kaynak, Mustafa Oguz, Adiguzel, Aydin, Sahan-Seref, Irem, Kurekci, Fulya, Bideci, Aysun, Hasanoglu, Enver

“…This study evaluated the nutritional status of Syrian refugees in the early adolescent period living in different vulnerable settings. Nutritional assessment…”
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Intestinal microbiota composition of children with glycogen storage Type I patients by Gokalp, Sabire, Dinleyici, Ener Cagri, Muluk, Cansu, Inci, Asli, Aktas, Emine, Okur, Ilyas, Ezgu, Fatih, Tumer, Leyla

“…Aim Dietary therapy of glycogen storage disease I (GSD I) is based on frequent feeding, with a high intake of complex carbohydrates (supplied by uncooked…”
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Retargeting phenylbutyrate, ursodeoxycholic acid, pyrimethamine and betaine for beta-glucocerebrosidase recovery in Gaucher disease fibroblasts resulting from homozygous p.L483P mutation by Kiliç, Ayse, Biberoğlu, Gürsel, Öktem, Murat, Inci, Aslı, Demirel, Sumeyye Aydogdu, Udgu, Basak, Yuce, Alime B., Gönül, Ipek, Okur, Ilyas, Tümer, Leyla, Ezgu, Fatih

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Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease by Ertoy Karagol, Hacer Ilbilge, Inci, Asli, Terece, Sinem Polat, Kilic, Ayse, Demir, Fevzi, Yapar, Dilek, Koken, Gizem, Okur, Ilyas, Ezgu, Fatih Suheyl, Tumer, Leyla, Bakirtas, Arzu

“…Pompe disease (PD) is an inherited lysosomal storage disease that progresses with glycogen accumulation in many tissues, due to the deficiency of the…”
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Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects by Walsh, Meghan T., Di Leo, Enza, Okur, Ilyas, Tarugi, Patrizia, Hussain, M. Mahmood

“…We describe two new hypolipidemic patients with very low plasma triglyceride and apolipoprotein B (apoB) levels with plasma lipid profiles similar to…”
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Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB by Okur, Ilyas, Ezgu, Fatih, Giugliani, Roberto, Muschol, Nicole, Koehn, Anja, Amartino, Hernan, Harmatz, Paul, de Castro Lopez, Maria J., Couce, Maria Luz, Lin, Shuan-Pei, Batzios, Spyros, Cleary, Maureen, Solano, Martha, Peters, Heidi, Lee, Joy, Nestrasil, Igor, Shaywitz, Adam J., Maricich, Stephen M., Kuca, Bernice, Kovalchin, Joseph, Zanelli, Eric

“…OBJECTIVETo characterize the longitudinal natural history of disease progression in pediatric subjects affected with mucopolysaccharidosis (MPS) IIIB. STUDY…”
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Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control? Tip I Glikojen Depo Hastaliginda Diyet Lifi Takviyesi; Daha Iyi Bir Metabolik Kontrole Katkida Bulunabilir Mi? by Sanli, Merve Emecen, Aktas, Emine, Inci, Asli, Okur, Ilyas, Ezgu, Fatih, Tumer, Leyla

“…Introduction: Glycogen storage disease type I (GSD I) is one of rare inborn error of metabolic disorder inherited with autosomal recessively. It has a key role…”
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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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First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient by Emecen Sanli, Merve, Ertoy Karagol, Hacer Ilbilge, Kilic, Ayse, Aktasoglu, Ekin, Inci, Asli, Okur, Ilyas, Ezgu, Fatih, Tumer, Leyla

“…Enzyme replacement therapy (ERT) with alglucosidase alfa (rhGAA) has changed the fatal course of infantile Pompe disease, however, development of anti rhGAA…”
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Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1 by Emecen Sanli, Merve, Cengiz, Basak, Kilic, Ayse, Ozsaydi, Ekin, Inci, Asli, Okur, Ilyas, Tumer, Leyla, Lebigot, Elise, Ezgu, Fatih

“…Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded by , and the enzyme catalyzes the…”
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