Search Results - "Uzun Unal, Ozlem"

A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis by Küçükçongar Yavaş, Aynur, Çavdarlı, Büşra, Ünal Uzun, Özlem, Uncuoğlu, Ayşen, Gündüz, Mehmet

“…Background Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding…”
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Successful sebelipase alfa desensitization in a pediatric patient by Kulhas Celik, Ilknur, Kucukcongar Yavas, Aynur, Unal Uzun, Ozlem, Siyah Bilgin, Betul, Dibek Misirlioglu, Emine, Gunduz, Mehmet

“…The infantile form of the disease (frequently called Wolman disease) presents as rapid progression and death before 1 year of age.1 Sebelipase alfa, a…”
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A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene by Esen, Tuna Eren, Uzun, Özlem Ünal, Ceylan, Ahmet Cevdet

“…Introduction: Biallelic variants in the SCL35D1 gene have been originally associated with a severe skeletal dysplasia called “Schneckenbecken dysplasia”…”
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Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood by Uzun, Özlem Ünal, Çavdarlı, Büşra, Karalök, Selen

“…The mitochondrial trifunctional protein (MTP) is a multienzyme complex of the fatty acid betaoxidation cycle. Mitochondrial trifunctional protein deficiency…”
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Two cases of MEGDHEL syndrome diagnosed with hyperammonemia by Molla, Gülhan Karakaya, Kağnıcı, Mehtap, Günlemez, Ayla, Yeni, Yaşar, Ünal Uzun, Özlem

“…MEGDHEL [3-methylglutaconic aciduria (MEG), deafness (D), hepatopathy (H), encephalopathy (E), and Leigh-like disease (L)] syndrome is an autosomal recessive…”
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Management of hypersensitivity reactions to enzyme replacement therapy in children with lysosomal storage diseases by Turgay Yagmur, Irem, Unal Uzun, Ozlem, Kucukcongar Yavas, Aynur, Kulhas Celik, Ilknur, Toyran, Muge, Gunduz, Mehmet, Civelek, Ersoy, Dibek Misirlioglu, Emine

“…Intravenous recombinant enzyme replacement therapy (ERT) is currently available for 8 lysosomal diseases. Hypersensitivity reactions (HSRs) may be observed…”
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Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency by Yılmaz, Begüm, Ceylan, Ahmet Cevdet, Gündüz, Mehmet, Ünal Uzun, Özlem, Küçükcongar Yavaş, Aynur, Bilginer Gürbüz, Berrak, Öncül, Ümmühan, Güleç Ceylan, Gülay, Kasapkara, Çiğdem Seher

“…Biotinidase deficiency (BD) is an autosomal recessive inherited metabolic disorder which results from the inability of biotin-dependent carboxylase enzymes to…”
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Difficult to think about but easy to treat: scurvy by Küçükçongar Yavaş, Aynur, Engin Erdal, Ayşenur, Çıtak Kurt, Ayşegül Neşe, Kurt, Tuba, Cankurt, İlknur, Ünal Uzun, Özlem

“…Severe vitamin C deficiency, or scurvy, presents as a syndrome of multisystem abnormalities associated with defective collagen synthesis and antioxidative…”
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Proteinuria and progressive kidney failure due to an inborn error of metabolism: Questions by Uzun, Özlem Ünal, Cengiz, Nurcan, Çavdarlı, Büşra, Bayrakçı, Umut, Kiremitçi, Saba, Yavaş, Aynur Küçükçongar

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Proteinuria and progressive kidney failure due to an inborn error of metabolism: Answers by Uzun, Özlem Ünal, Cengiz, Nurcan, Çavdarlı, Büşra, Bayrakçı, Umut, Kiremitçi, Saba, Yavaş, Aynur Küçükçongar

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Molecular and clinical findings of Turkish patients with hereditary fructose intolerance by Gunduz, Mehmet, Ünal-Uzun, Özlem, Koç, Nevra, Ceylaner, Serdar, Özaydın, Eda, Kasapkara, Çiğdem Seher

“…Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency in aldolase B that can result in hypoglycemia, nausea,…”
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Evaluation of nutritional status in pediatric patients diagnosed with Covid-19 infection by Karakaya Molla, Gülhan, Ünal Uzun, Özlem, Koç, Nevra, Özen Yeşil, Burcu, Bayhan, Gülsüm İclal

“…The aim of this study was to evaluate the nutritional status, the nutritional effect on the risk of infection and the severity of the disease, and the…”
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Three-Country Snapshot of Ornithine Transcarbamylase Deficiency by Seker Yilmaz, Berna, Baruteau, Julien, Arslan, Nur, Aydin, Halil Ibrahim, Barth, Magalie, Bozaci, Ayse Ergul, Brassier, Anais, Canda, Ebru, Cano, Aline, Chronopoulou, Efstathia, Connolly, Grainne M, Damaj, Lena, Dawson, Charlotte, Dobbelaere, Dries, Douillard, Claire, Eminoglu, Fatma Tuba, Erdol, Sahin, Ersoy, Melike, Fang, Sherry, Feillet, François, Gokcay, Gulden, Goksoy, Emine, Gorce, Magali, Inci, Asli, Kadioglu, Banu, Kardas, Fatih, Kasapkara, Cigdem Seher, Kilic Yildirim, Gonca, Kor, Deniz, Kose, Melis, Marelli, Cecilia, Mundy, Helen, O'Sullivan, Siobhan, Ozturk Hismi, Burcu, Ramachandran, Radha, Roubertie, Agathe, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M, Uzun Unal, Ozlem, Yildiz, Yilmaz, Zubarioglu, Tanyel, Gissen, Paul

“…X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to…”
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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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Taliglucerase-alfa experience with 34 Gaucher disease patients from Turkey by Mungan, Neslihan Onenli, Coker, Mahmut, Yildirim, Gonca Kilic, Uzun, Ozlem Unal, Ersoy, Melike, Zeybek, Ayse Cigdem Aktuglu, Gunes, Seda, Arslan, Nur, Tümer, Leyla, Kilic, Mustafa, Eminoglu, Tuba, Gunduz, Mehmet, Keskin, Mehmet, Kor, Deniz, Canda, Ebru, Bulut, Derya, Ucar, Sema Kalkan

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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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Successful sebelipase alfa desensitization in a pediatric patient by Kulhas Celik, Ilknur, Kucukcongar Yavas, Aynur, Unal Uzun, Ozlem, Siyah Bilgin, Betul, Dibek Misirlioglu, Emine, Gunduz, Mehmet

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Pediyatrik beslenme el kitabı: şematik yaklaşım / edited by David L. Suskind, Polly Lenssen ; çeviri editörü, Turgay Coşkun ; çeviri editörü yardımcısı, Özlem Ünal by Lenssen, Polly, Suskind, David L, Coşkun, Turgay, Ünal Uzun, Özlem

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Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood by Uzun, Özlem Ünal, Çavdarlı, Büşra, Karalök, Selen

“…BACKGROUNDThe mitochondrial trifunctional protein (MTP) is a multienzyme complex of the fatty acid betaoxidation cycle. Mitochondrial trifunctional protein…”
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