Malonyl coenzyme A decarboxylase deficiency with a novel mutation von Kasapkara, Cigdem S., Civelek Ürey, Burcu, Ceylan, Ahmet C., Ünal Uzun, Özlem, Çetin, Ibrahim İ.

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

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A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene von Esen, Tuna Eren, Uzun, Özlem Ünal, Ceylan, Ahmet Cevdet

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Management of hypersensitivity reactions to enzyme replacement therapy in children with lysosomal storage diseases von Turgay Yagmur, Irem, Unal Uzun, Ozlem, Kucukcongar Yavas, Aynur, Kulhas Celik, Ilknur, Toyran, Muge, Gunduz, Mehmet, Civelek, Ersoy, Dibek Misirlioglu, Emine

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

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Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency von Yılmaz, Begüm, Ceylan, Ahmet Cevdet, Gündüz, Mehmet, Ünal Uzun, Özlem, Küçükcongar Yavaş, Aynur, Bilginer Gürbüz, Berrak, Öncül, Ümmühan, Güleç Ceylan, Gülay, Kasapkara, Çiğdem Seher

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Evaluation of nutritional status in pediatric patients diagnosed with Covid-19 infection von Karakaya Molla, Gülhan, Ünal Uzun, Özlem, Koç, Nevra, Özen Yeşil, Burcu, Bayhan, Gülsüm İclal

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

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Three-Country Snapshot of Ornithine Transcarbamylase Deficiency von 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

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Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients von Bahar Ister, Meral, Cinar, Muge, Ceylaner, Serdar, Uzun, Ozlem Unal

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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 von Kisa, Pelin Teke, Uzun, Ozlem Unal, Gunduz, Mehmet, Bulbul, Fatma Selda, Kose, Engin, Arslan, Nur

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Taliglucerase-alfa experience with 34 Gaucher disease patients from Turkey von 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 von 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

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Three-Country Snapshot of Ornithine Transcarbamylase Deficiency von 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

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

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Three-Country Snapshot of Ornithine Transcarbamylase Deficiency von 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, Roube, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M, Uzun Unal, Ozlem, Yildiz, Yilmaz, Zubarioglu, Tanyel, Gissen, Paul

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

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Proteinuria and progressive kidney failure due to an inborn error of metabolism: Answers von Uzun, Özlem Ünal, Cengiz, Nurcan, Çavdarli, Büsra, Bayrakçi, Umut, Kiremitçi, Saba, Yavas, Aynur Küçükçongar

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Proteinuria and progressive kidney failure due to an inborn error of metabolism: Questions von Uzun, Özlem Ünal, Cengiz, Nurcan, Çavdarli, Büsra, Bayrakçi, Umut, Kiremitçi, Saba, Yavas, Aynur Küçükçongar

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