A surprising cause of proteinuria: Questions von Demir, Belde Kasap, Kanık, Ali, Köse, Melis, Hişmi, Burcu Öztürk, Baran, Maşallah

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A surprising cause of proteinuria: Answers von Demir, Belde Kasap, Kanık, Ali, Köse, Melis, Hişmi, Burcu Öztürk, Baran, Maşallah

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Outcomes of Dyslipidemia Screening Program in School-aged Children von Kose, Engin, Kose, Melis, Topcu, Sipil, Matur, Busra, Baris, Buket, Ozkan, Behzat

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The effect of ketogenic diet on serum lipid concentrations in children with medication resistant epilepsy von Yılmaz, Ünsal, Edizer, Selvinaz, Köse, Melis, Akışin, Zeynep, Güzin, Yiğithan, Pekuz, Serdar, Kırkgöz, Hatice Hilal, Yavuz, Merve, Ünalp, Aycan

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Inborn errors of metabolism in palliative care von Harputluoğlu, Nilgün, Köse, Melis, Yılmaz, Ünsal, Çelik, Tanju

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Evaluation of the Neurodevelopmental Status for Urea Cycle Disorders: Based on Clinical Experience von Ergül Bozacı, Ayşe, Göksoy, Emine, Tekmenuray Ünal, Aysel, Mutlu Albayrak, Hatice, Taş, İbrahim, Kanar, Berat, Özbek, Mehmet Nuri, Köse, Melis

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Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis von Canda, Ebru, Kose, Melis, Kagnici, Mehtap, Dondurmaci, Meral, Ucar, Sema Kalkan, Sozmen, Eser, Levent, Resit Erturk, Coker, Mahmut

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The effectiveness of the ketogenic diet in drug-resistant childhood epilepsy von Yılmaz, Ünsal, Yavuz, Merve, Kırkgöz, Hatice Hilal, Pekuz, Serdar, Sarıtaş, Serdar, Baysal, Bahar Toklu, Gürbüz, Gürkan, Güzin, Yiğithan, Köse, Melis, Akışin, Zeynep, Edizer, Selvinaz, Ünalp, Aycan

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Expanding the spectrum of VAC14 related pediatric-onset neurological disease; striatonigral degeneration with brainstem involvement von Karaoğlu, Pakize, Köse, Melis

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A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate von Uçar, Sema Kalkan, Kagnici, Mehtap, Canda, Ebru, Köse, Melis, Çoker, Mahmut

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A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy von Unalp, Aycan, Kose, Melis, Karaoglu, Pakize, Guzin, Yigithan, Yilmaz, Unsal

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Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene von Köse, Engin, Köse, Melis, Edizer, Selvinaz, Akışın, Zeynep, Yılmaz, Zehra Burcu, Şahin, Ahmet, Genel, Ferah

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Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application von Atik, Tahir, Avci Durmusalioglu, Enise, Isik, Esra, Kose, Melis, Kanmaz, Seda, Aykut, Ayca, Durmaz, Asude, Ozkinay, Ferda, Cogulu, Ozgur

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A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities von Cavusoglu, Dilek, Kose, Melis, Er, Esra, Elmas, Muhsin, Gencpinar, Pinar, Dundar, Nihal Olgaç, Aydin, Kursad

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Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey von Kose, Melis, Kose, Engin, Ünalp, Aycan, Yılmaz, Ünsal, Edizer, Selvinaz, Tekin, Hande Gazeteci, Karaoğlu, Pakize, Özdemir, Taha Reşid, Er, Esra, Onay, Hüseyin, Yildirim, Eser Sozmen

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A neglected cause of recurrent rhabdomyolysis, LPIN1 gene defect: a rare case from Turkey von Topal, Sevgi, Köse, Melis Demir, Ağın, Hasan, Sarı, Ferhat, Çolak, Mustafa, Atakul, Gülhan, Karaarslan, Utku, İşgüder, Rana

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Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey von Melis Kose, Engin Kose, Mehtap Kagnici, Hande Gazeteci Tekin, Burçin Ozen, Taha Reşid Ozdemir, Özgür Kirbiyik, Huseyin Onay, Ünsal Yilmaz, Aycan Unalp

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Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey von Bozaci, Ayse Ergül, Er, Esra, Ünal, Aysel Tekmenuray, Taş, İbrahim, Ayaz, Ercan, Ozbek, Mehmet Nuri, Durmaz, Asude, Aykut, Ayçe, Kose, Melis

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Inborn Errors of Metabolism in Pediatric Palliative Care von Harputluoğlu, Nilgün, Köse, Melis, Yılmaz, Ünsal, Çelik, Tanju

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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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