The Evaluation of Skeletal Manifestations in Patients with Gaucher Disease von Kasapkara, Cigdem Seher, Olgac, Asburce, Okur, Ilyas, Ezgu, Fatih Suheyl, Tumer, Leyla

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Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa von Olgac, Asburce, İnci, Aslı, Okur, İlyas, Biberoğlu, Gürsel, Oğuz, Deniz, Ezgü, Fatih Süheyl, Kasapkara, Çiğdem Seher, Aktaş, Emine, Tümer, Leyla

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Autism: Screening of inborn errors of metabolism and unexpected results von İnci, Aslı, Özaslan, Ahmet, Okur, İlyas, Biberoğlu, Gürsel, Güney, Esra, Ezgü, Fatih Süheyl, Tümer, Leyla, İşeri, Elvan

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The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis von İnci, Aslı, Aktaş, Emine, Cengiz Ergin, Filiz Başak, Okur, İlyas, Biberoğlu, Gürsel, Ezgü, Fatih Süheyl, Tümer, Leyla

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The effect of a geometric-shaped tool with blue led light on the activation of human dermal fibroblasts and cancer cells von Toruner, Ebru Kilicarslan, Kayhan, Handan, Ezgu, Fatih Suheyl

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Variants of Fumarate Hydratase Gene in Uterine Disorders: A Clinical Trial von KAZANCI, Ferah, YÜKSEL, Dilek, EZGÜ, Fatih Süheyl, ERDEM, Özlem, ONAN, Mehmet Anıl

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An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochon- drial DNA depletion syndrome with a novel mutation von İnci, Aslı, Okur, İlyas, Demir, Ercan, Biberoğlu, Gürsel, Tümer, Leyla, Serdaroğlu, Ayşe, Ezgü, Fatih Süheyl

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Ultra-Rare Disorder in a Young Girl with Lipodystrophy: Analbuminemia von İnci, Aslı, Arslan, Burak, Okur, İlyas, Biberoğlu, Gürsel, Şanlı, Merve Emecan, Aktaşoğlu, Ekin, Kılıç, Ayşe, Tümer, Leyla, Ezgü, Fatih Süheyl

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Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia von Öktem, Rıdvan Murat, İnci, Aslı, Bayrak, Harun, Demir, Fevzi, Biberoğlu, Gürsel, Maviş, Murat Emrah, Gürsu, Gökçe Göksu, Yılmaz, Hazal, Okur, İlyas, Ezgü, Fatih Suheyl, Tümer, Leyla

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Hypophosphatasia: is it an underdiagnosed disease even by expert physicians? von 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

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N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia von Kasapkara, Cigdem Seher, Ezgu, Fatih Suheyl, Okur, Ilyas, Tumer, Leyla, Biberoglu, Gursel, Hasanoglu, Alev

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Early severe anemia as the first sign of cystic fibrosis von Sismanlar, Tugba, Aslan, Ayşe Tana, Köse, Mehmet, Pekcan, Sevgi, Ezgü, Fatih Süheyl, Budakoğlu, Işıl İrem, Yenicesu, İdil

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Multicystic Dysplastic Kidney and Incontinentia Pigmenti: Coexistence of 2 Rare Diseases von Serra, Sürmeli Döven, Delibas, Ali, Türsen, Ümit, Ezgü, Fatih Süheyl

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The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition von ONAN, Duru, YORULMAZ, Ahu, EZGÜ, Fatih Süheyl, HAYRAN, Kadir Mutlu, KÜLCÜ, Seray, ARTÜZ, Refika Ferda, YALÇIN, Başak

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Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutationsb von Valstar, Marlies J, Bertoli-Avella, Aida M, Wessels, Marja W, Ruijter, George J.G, de Graaf, Bianca, Olmer, Renske, Elfferich, Peter, Neijs, Sanne, Kariminejad, Roxana, Suheyl Ezgü, Fatih, Tokatli, Aysegul, Czartoryska, Barbara, Bosschaart, Ad N, van den Bos-Terpstra, Feikje, Puissant, Hugues, Bürger, Friederike, Omran, Heymut, Eckert, D, Filocamo, Mirella, Simeonov, Emil, Willems, Patrick J, Wevers, Ron A, Niermeijer, Martinus F, Halley, Dicky J.J, Poorthuis, Ben J.H.M, van Diggelen, Otto P

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Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features von DAMAR, Çağrı, DERİNKUYU, Betül Emine, KILIÇKAYA, Muazzez Asburçe Bike Olgaç, ÖZTÜRK, Mehmet, ÖZTUNALI, Çiğdem, ALIMLI, Ayşe Gül, BOYUNAĞA, Öznur Leman, UÇAR, Murat, EZGÜ, Fatih Süheyl, TÜMER, Leyla, BÖRCEK, Alp Özgün, SIĞIRCI, Ahmet

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A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi Syndrome von Yiş, Uluç, Ezgü, Fatih Süheyl, Karakaya, Pakize, Polat, İpek, Arslan, Nur, Çankaya, Tufan, Bozkaya, Özlem Giray, Kurul, Semra Hız

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Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray von Eminoglu, Tuba Fatma, Ezgu, Fatih Süheyl, Hasanoglu, Alev, Tumer, Leyla

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BCS1L gene mutation causing GRACILE syndrome: case report von Kasapkara, Çi dem Seher, Tümer, Leyla, Ezgü, Fatih Suheyl, Küçükçongar, Aynur, Hasano lu, Alev

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Radiologic findings of Patterson-Lowry rhizomelic dysplasia in two sisters von Damar, Çağrı, Boyunağa, Öznur, Derinkuyu, Betül Emine, Battaloğlu, Nergiz, Ezgü, Fatih Süheyl

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