Search Results - "Teke Kisa, Pelin"

A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice by Ozler, Oguz, Egeli, Bugra Han, Zeybek, Selcan, Eris, Erdem, Teke Kisa, Pelin

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Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? by Pennisi, Alessandra, Rötig, Agnès, Roux, Charles-Joris, Lévy, Raphaël, Henneke, Marco, Gärtner, Jutta, Teke Kisa, Pelin, Sarioglu, Fatma Ceren, Yiş, Uluç, Konczal, Laura L, Burkardt, Deepika D, Wu, Sulin, Gaignard, Pauline, Besmond, Claude, Hubert, Laurence, Rio, Marlène, Barcia, Giulia, Munnich, Arnold, Boddaert, Nathalie, Schiff, Manuel

“…Biallelic variants in cause a mitochondrial disease of variable severity. PNPT1 (polynucleotide phosphorylase) is a mitochondrial protein involved in RNA…”
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Positive effects of ketogenic diet on weight control in children with obesity due to Prader–Willi syndrome by Teke Kısa, Pelin, Güzel, Orkide, Arslan, Nur, Demir, Korcan

“…Objective Prader–Willi Syndrome (PWS) is the most common genetic cause of obesity. Prevention and management of obesity, which represents the main cause of…”
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Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease by Kisa, Pelin Teke, Hismi, Burcu Ozturk, Kocabey, Mehmet, Gulten, Zumrut Arslan, Huddam, Bulent, Ekinci, Selim, Bozkaya, Evrim, Akar, Harun, Pekuz, Ozge K. Karalar, Aydogan, Ayca, Arslan, Nur

“…The wide range of clinical symptoms observed in patients with Fabry disease (FD) often leads to delays in diagnosis and initiation of treatment. Delayed…”
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Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey by Teke Kisa, Pelin, Kose, Melis, Unal, Ozlem, Er, Esra, Hismi, Burcu Ozturk, Bulbul, Fatma Selda, Kose, Engin, Gunduz, Mehmet, Canda, Ebru, Kucukcongar, Aynur, Arslan, Nur

“…Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early…”
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Inflammatory rheumatic diseases in patients with ochronotic arthropathy by Yuce Inel, Tuba, Kisa, Pelin Teke, Balci, Ali, Uslu, Sadettin, Arslan, Zumrut, Hismi, Burcu Ozturk, Ucar, Ulku, Arslan, Nur, Onen, Fatos, Sari, Ismail

“…Ochronotic arthropathy (OcA) refers to excessive homogentisic acid (HGA) deposition in the musculoskeletal system. Our current understanding of OcA is limited,…”
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Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis? by Köse, Engin, Çağatay, Elçin, Yaraş, Tutku, Kısa, Pelin Teke, Güler, Seminay, Gülten, Zümrüt Arslan, Akarsu, Mesut, Oktay, Yavuz, Kayalı, Hülya Ayar, Arslan, Nur

“…Cholesterol ester storage disease (CESD) is one of the rare causes that should be kept in mind in the etiology of cirrhosis. Recent studies detected that…”
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Lipemia Retinalis Diagnosed Incidentally After Laser Photocoagulation Treatment for Retinopathy of Prematurity by Öztürk, Taylan, Karataş Yiğitaslan, Ezgi, Teke Kısa, Pelin, Onay, Hüseyin, Saatci, Ali Osman

“…A preterm infant who underwent bilateral laser photocoagulation for the treatment of stage 3 retinopathy of prematurity (ROP) is presented because she was…”
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A challenging etiology of myopathy: The late-onset Pompe disease by Inel, Tuba Yuce, Avsar, Aydan Koken, Kisa, Pelin Teke, Ozer, Erdener, Sari, Ismail

“…Pompe disease is a rare metabolic disorder that is characterized by the deficiency of the acid aglucosidase. As a result, glycogen accumulates in several…”
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Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis by Teke Kısa, Pelin, Köse, Engin, Ateşoğlu, Merve, Arslan, Nur

“…Aim: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficiency of spesific lysosomal enzymes required to break down…”
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Role of surveillance screening in detecting tumor recurrence after treatment of childhood cancers by Teke Kısa, Pelin, Emir, Suna

“…OBJECTIVEAs the survival rates in children with cancer reach up to 80%, this improvement in survival increases the number of patients under follow-up. After…”
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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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Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation by Kose, Engin, Armagan, Coskun, Teke Kısa, Pelin, Onay, Huseyin, Arslan, Nur

“…Background Familial apo C-II deficiency is a rare hereditary disorder frequently caused by lipoprotein lipase (LPL) and APOC2 gene mutations. To date, less…”
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Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement by Kısa, Pelin Teke, Yildirim, Gonca Kilic, Hismi, Burcu Ozturk, Dorum, Sevil, Kusbeci, Ozge Yilmaz, Topak, Ali, Baydan, Figen, Celik, Fatma Nazlı Durmaz, Gorukmez, Orhan, Gulten, Zumrut Arslan, Ekici, Arzu, Ozkan, Serhat, Yaman, Aylin, Arslan, Nur

“…Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter,…”
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Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement by Çağatay Günay, Cem Paketçi, Pınar Edem, Gamze Sarıkaya Uzan, Ayşe Semra Hız Kurul, Zümrüt Arslan Gülten, Pelin Teke Kısa, Nur Arslan, Uluç Yıs

“…Objective: Due to the fact that mitochondrial diseases can involve different organ systems, neuromuscular involvement is frequently observed and has a…”
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Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises by Kisa, Pelin Teke, Uzun, Ozlem Unal, Gunduz, Mehmet, Bulbul, Fatma Selda, Kose, Engin, Arslan, Nur

“…This study aimed to investigate the frequency and status of depression and anxiety among mothers of children with inborn errors of metabolism (IEM) who were on…”
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Investigating myelin oligodendrocyte glycoprotein antibodies in hereditary citrullinemia by Oncel, Ibrahim, Yousefi, Mohammadreza, Inci, Asli, Gulten, Zumrut Arslan, Kisa, Pelin Teke, Karaca, Meryem, Unal, Özlem, Gunduz, Mehmet, Kor, Deniz, Mungan, Neslihan Onenli, Arslan, Nur, Tumer, Leyla, Gucuyener, Kivilcim, Vural, Atay, Anlar, Banu

“…Metabolites like lipids, amino acids or peptides can affect the immune system. Citrulline is an amino acid that activates several inflammatory pathways. Serum…”
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Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients by Kisa, Pelin Teke, Gunduz, Mehmet, Dorum, Sevil, Uzun, Ozlem Unal, Cakar, Nafiye Emel, Yildirim, Gonca Kilic, Erdol, Sahin, Hismi, Burcu Ozturk, Tugsal, Handan Yarkan, Ucar, Ulku, Gorukmez, Ozlem, Gulten, Zumrut Arslan, Kucukcongar, Aynur, Bulbul, Selda, Sari, Ismail, Arslan, Nur

“…Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene…”
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Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis/Mukopolisakkaridoz Hastalarinin Demografik ve Klinik Ozelliklerinin Degerlendirilmesi by Kisa, Pelin Teke, Kose, Engin, Atesoglu, Merve, Arslan, Nur

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Fabry disease in familial Mediterranean fever according to the severity of the disease by Uslu, Sadettin, Kabadayi, Gökhan, Teke Kısa, Pelin, Yüce Inel, Tuba, Arslan, Zümrüt, Arslan, Nur, Akar, Servet, Onen, Fatos, Sari, Ismail

“…Mutations in the α-galactosidase A (GLA) gene result in Fabry disease (FD), a rare metabolic condition. FD patients present with heterogeneous clinical…”
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