Mutations within The Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
Bulut, Fatma Derya, Özdemir Dilek, Semine, Kotan, Damla, Mengen, Eda, Gürbüz, Fatih, Yüksel, Bilgin
Published in Journal of clinical research in pediatric endocrinology (01.09.2020)
Published in Journal of clinical research in pediatric endocrinology (01.09.2020)
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Journal Article
GM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations
BİLGİNER GÜRBÜZ, Berrak, BULUT, Fatma Derya, KOÇ UÇAR, Habibe, SARIGEÇİLİ, Esra, SARIKEPE, Bilge, ÖZALP YÜREĞİR, Özge
Published in Cukurova Medical Journal (30.09.2021)
Published in Cukurova Medical Journal (30.09.2021)
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Journal Article
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign
Inan, Ayse Hitay, Yilmaz, Berna Seker, Bulut, Fatma Derya, Kilavuz, Sebile, Kor, Deniz, Karakas, Mehmet, Mungan, Halise Neslihan Onenli
Published in The journal of pediatric research (01.06.2021)
Published in The journal of pediatric research (01.06.2021)
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Journal Article
Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series
Kılavuz, Sebile, Basaran, Sibel, Kor, Deniz, Bulut, Fatma Derya, Erdem, Sevcan, Ballı, Hüseyin Tuğsan, Dağkıran, Muhammed, Bisgin, Atil, Mungan, Halise Neslihan Önenli
Published in Orphanet journal of rare diseases (22.03.2021)
Published in Orphanet journal of rare diseases (22.03.2021)
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Journal Article
Evaluation of bone health in patients with mucopolysaccharidosis
Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Şeker Yılmaz, Berna, Köşeci, Burcu, Kara, Esra, Kaya, Ömer, Başaran, Sibel, Seydaoğlu, Gülşah, Önenli Mungan, Neslihan
Published in Journal of bone and mineral metabolism (01.05.2022)
Published in Journal of bone and mineral metabolism (01.05.2022)
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Journal Article
Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy
Kalkan Uçar, Sema, Yazıcı, Havva, Canda, Ebru, Er, Esra, Bulut, Fatma Derya, Eraslan, Cenk, Onay, Hüseyin, Bax, Bridget Elizabeth, Çoker, Mahmut
Published in JIMD reports (01.09.2022)
Published in JIMD reports (01.09.2022)
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Journal Article
Hiperkarotenemi
Cansever Övetti, Nefise Hilal, Önenli Mungan, Halise Neslihan, Yılmaz, Berna Şeker, Bulut, Fatma Derya
Published in Cukurova Medical Journal (30.06.2018)
Published in Cukurova Medical Journal (30.06.2018)
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Journal Article
Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience
Kilavuz, Sebile, Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Basaran, Sibel, Sarpel, Tunay, Mungan, Neslihan Onenli
Published in The journal of pediatric research (01.03.2018)
Published in The journal of pediatric research (01.03.2018)
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Journal Article
A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome
Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Yilmaz, Mustafa, Altintas, Derya Ufuk, Ceylaner, Serdar, Kilavuz, Sebile, Mungan, Neslihan Onenli
Published in The journal of pediatric research (01.03.2018)
Published in The journal of pediatric research (01.03.2018)
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Journal Article
Tekrarlayan Fasiyal Paralizili bir olgu: Melkersson-Rosenthal Sendromu
Bulut, Derya Fatma, Mert, Gülen Gül, İncecik, Faruk, Hergüner, Özlem Mihriban, Altunbaşak, Şakir
Published in Cukurova Medical Journal (01.12.2014)
Published in Cukurova Medical Journal (01.12.2014)
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Journal Article
Mukopolisakkaridozlu hastalarda vitamin B12 düzeyleri
KOR, Deniz, BULUT, Fatma Derya, ŞEKER, Berna, KILAVUZ, Sebile, ÖNENLİ MUNGAN, H. Neslihan
Published in Cukurova Medical Journal (30.06.2020)
Published in Cukurova Medical Journal (30.06.2020)
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Journal Article
Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria
Bulut, Fatma Derya, Kor, Deniz, Kilavuz, Sebile, Cicek, Ebru, Koseci, Burcu, Kara, Esra, Burgac, Ezgi, Kaplan, İrem, Onenli Mungan, Neslihan
Published in Journal of paediatrics and child health (01.11.2023)
Published in Journal of paediatrics and child health (01.11.2023)
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Journal Article
Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey
Bulut, Fatma Derya, Seydaoğlu, Gülşah, Kor, Deniz, Kılavuz, Sebile, Boz, Aslı, Önenli Mungan, Neslihan
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2023)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2023)
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Journal Article
Early diagnostic clues of mucolipidosis type II: Significance of radiological findings
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
Published in American journal of medical genetics. Part A (01.06.2024)
Published in American journal of medical genetics. Part A (01.06.2024)
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Journal Article
Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report
Kara, Esra, Kor, Deniz, Bulut, Fatma Derya, Hergüner, Özlem, Ceylaner, Serdar, Köşeci, Burcu, Burgaç, Ezgi, Mungan, Neslihan Önenli
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2021)
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2021)
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Journal Article
Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome
Ozek, Gülcihan, Aksoylar, Serap, Uçar, Sema Kalkan, Canda, Ebru, Akcan, Mediha, Cartı, Ozgür, Siviş, Zuhal Onder, Oymak, Yeşim, Yazıcı, Havva, Bax, Bridget, Bulut, Fatma Derya, Yoldaş Çelik, Merve, Erdem, Fehime, Çoker, Mahmut, Kansoy, Savaş
Published in Pediatric blood & cancer (01.07.2023)
Published in Pediatric blood & cancer (01.07.2023)
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Journal Article
A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency
Gürbüz, Berrak Bilginer, Güney, İlker, Bulut, Fatma Derya, Dilek, Okan
Published in The Turkish journal of pediatrics (01.09.2020)
Published in The Turkish journal of pediatrics (01.09.2020)
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Journal Article