Early diagnostic clues of mucolipidosis type II: Significance of radiological findings von Burgac, Ezgi, Kaplan, İrem, Köseci, Burcu, Kara, Esra, Kor, Deniz, Bulut, Fatma Derya, Atmış, Anıl, Pişkin, Ferhatcan, Tuğ Bozdoğan, Sevcan, Urel Demir, Gizem, İncecik, Faruk, Önenli Mungan, Neslihan

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Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series von Kılavuz, Sebile, Basaran, Sibel, Kor, Deniz, Bulut, Fatma Derya, Erdem, Sevcan, Ballı, Hüseyin Tuğsan, Dağkıran, Muhammed, Bisgin, Atil, Mungan, Halise Neslihan Önenli

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Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders von Yılmaz, Berna Şeker, Ceylaner, Serdar, Mungan, Neslihan Önenli

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Recommendations on phenylketonuria in Turkey von Coşkun, Turgay, Çoker, Mahmut, Mungan, Neslihan Önenli, Özel, Hülya Gökmen, Sivri, H Serap

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Coexistence of molybdenum cofactor deficiency type A and hypertrophic pyloric stenosis, a new case von Satar, Mehmet, Kurtoğlu, Ahmet İbrahim, Yıldızdaş, Hacer Y, Önenli Mungan, Neslihan, Özlü, Ferda, Bişgin, Atıl

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A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase von Kılıç, Mustafa, Kasapkara, Çiğdem Seher, Kılavuz, Sebile, Mungan, Neslihan Önenli, Biberoğlu, Gürsel

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Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey von Bulut, Fatma Derya, Seydaoğlu, Gülşah, Kor, Deniz, Kılavuz, Sebile, Boz, Aslı, Önenli Mungan, Neslihan

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Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign von Inan, Ayse Hitay, Yilmaz, Berna Seker, Bulut, Fatma Derya, Kilavuz, Sebile, Kor, Deniz, Karakas, Mehmet, Mungan, Halise Neslihan Onenli

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Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member von Topçu, Meral, Aktas, Dilek, Öztoprak, Merih, Mungan, Neslihan Önenli, Yuce, Aysel, Alikasifoglu, Mehmet

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Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience von Kilavuz, Sebile, Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Basaran, Sibel, Sarpel, Tunay, Mungan, Neslihan Onenli

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A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome von Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Yilmaz, Mustafa, Altintas, Derya Ufuk, Ceylaner, Serdar, Kilavuz, Sebile, Mungan, Neslihan Onenli

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Evaluation of bone health in patients with mucopolysaccharidosis von Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Şeker Yılmaz, Berna, Köşeci, Burcu, Kara, Esra, Kaya, Ömer, Başaran, Sibel, Seydaoğlu, Gülşah, Önenli Mungan, Neslihan

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Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis von Bulut, Fatma Derya, Kor, Deniz, Kılavuz, Sebile, Şeker Yılmaz, Berna, Kaplan, İrem, Ekinci, Faruk, Burgaç, Ezgi, Varol, İlknur, Köşeci, Burcu, Tuğ Bozdoğan, Sevcan, Kara, Esra, Demir, Fadli, Deniz, Ali, Temiz, Fatih, Önenli Mungan, Neslihan

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OP-122 Mucopolysaccharidosis type II in turkey from the east to the west von Yazıcı, Havva, Kara, Esra, Bulut, Fatma Derya, Çelik, Merve Yoldaş, Köşeci, Burcu, Karapınar, Fehime Erdem, Burgaç, Ezgi, Yanbolu, Ayşe Yüksel, Kaplan, İrem, Durmaz, Asude, Aykut, Ayça, Canda, Ebru, Kor, Deniz, Uçar, Sema Kalkan, Sözmen, Eser, Çoker, Mahmut, Önenli Mungan, Halise Neslihan

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Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone von Önenli Mungan, Neslihan, Yıldızdaş, Dinçer, Kör, Deniz, Horoz, Özden Özgür, İncecik, Faruk, Öktem, Murat, Sander, Johannes

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Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism von Gürbüz, Fatih, Kotan, L Damla, Mengen, Eda, Şıklar, Zeynep, Berberoğlu, Merih, Dökmetaş, Sebila, Kılıçlı, Mehmet Fatih, Güven, Ayla, Kirel, Birgül, Saka, Nurçin, Poyrazoğlu, Şükran, Cesur, Yaşar, Doğan, Murat, Özen, Samim, Özbek, Mehmet Nuri, Demirbilek, Hüseyin, Kekil, M Burcu, Temiz, Fatih, Önenli Mungan, Neslihan, Yüksel, Bilgin, Topaloğlu, Ali Kemal

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Combination of two different homozygote mutations in Pompe disease von Arslan, Alev, Poyrazoğlu, Hatice Gamze, Kiraz, Aslihan, Özcan, Alper, Işık, Halid, Ergul, Ayse Betül, Mungan, Neslihan Önenli, Streubel, Berthold, Ceylaner, Serdar, Altuner Torun, Yasemin

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Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data von Shapiro, Elsa, Lourenço, Charles Marques, Mungan, Neslihan Onenli, Muschol, Nicole, O'Neill, Cara, Vijayaraghavan, Suresh

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Serum IGF-1 and IGFBP-3 levels in healthy children between 0 and 6 years of age von Yüksel, Bilgin, Özbek, M Nuri, Mungan, Neslihan Önenli, Darendeliler, Feyza, Budan, Bahar, Bideci, Aysun, Çetinkaya, Ergün, Berberoğlu, Merih, Evliyaoğlu, Olcay, Yeşilkaya, Ediz, Arslanoğlu, İlknur, Darcan, Şükran, Bundak, Ruveyde, Ercan, Oya

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Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective von Arslan, Nur, Coker, Mahmut, Gokcay, Gulden Fatma, Kiykim, Ertugrul, Onenli Mungan, Halise Neslihan, Ezgu, Fatih

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