Giant thymic cyst overclouding the diagnosis of fibrodysplasia ossificans progressiva: an inconvenient coincidence
Küçükali, Batuhan, Kutlar Tanıdır, Merve, Esmeray Şenol, Pelin, Yıldız, Çisem, Karaçayır, Nihal, Belder, Nuran, Gezgin Yıldırım, Deniz, Ezgü, Fatih S, Bakkaloğlu, Sevcan A
Published in Rheumatology (Oxford, England) (02.04.2024)
Published in Rheumatology (Oxford, England) (02.04.2024)
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Journal Article
Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA
Bruce, Iain A, Ezgü, Fatih S, Kampmann, Christoph, Kenis, Vladimir, Mackenzie, William, Stevens, Bob, Walker, Robert, Hendriksz, Christian
Published in Orphanet journal of rare diseases (02.03.2022)
Published in Orphanet journal of rare diseases (02.03.2022)
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Journal Article
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation
Yıldız, Çisem, Gezgin Yıldırım, Deniz, Inci, Asli, Tümer, Leyla, Cengiz Ergin, Filiz Basak, Sunar Yayla, Emine Nur Sunar, Esmeray Şenol, Pelin, Karaçayır, Nihal, Eğritaş Gürkan, Ödül, Okur, Ilyas, Ezgü, Fatih S., Bakkaloğlu, Sevcan A.
Published in Joint, bone, spine : revue du rhumatisme (01.01.2023)
Published in Joint, bone, spine : revue du rhumatisme (01.01.2023)
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Journal Article
Co-Occurring Atypical Galactosemia and Wilson Disease
Doğulu, Neslihan, Kose, Engin, Tuna Kirsaçlioğlu, Ceyda, Ezgü, Fatih S., Kuloğlu, Zarife, Kansu, Aydan, Eminoglu, Fatma T.
Published in Molecular syndromology (01.12.2022)
Published in Molecular syndromology (01.12.2022)
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Journal Article
Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study
Bakkaloğlu, Sevcan A., Büyükkaragöz, Bahar, Pınarbaşı, Ayşe Seda, Leventoğlu, Emre, Saygılı, Seha, Çomak, Elif, Yıldırım, Zeynep Y., Akıncı, Nurver, Dursun, İsmail, Karabay Bayazıt, Aysun, Kavaz Tufan, Aslı, Akman, Sema, Yılmaz, Alev, Noyan, Aytül, Ağbaş, Ayşe, Serdaroğlu, Erkin, Delibaş, Ali, Elmacı, Ahmet Midhat, Taşdemir, Mehmet, Ezgü, Fatih S., Sever, Lale
Published in Nephrology (Carlton, Vic.) (01.04.2024)
Published in Nephrology (Carlton, Vic.) (01.04.2024)
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Journal Article
Patient With Niemann-Pick Type C Presenting With a Jaw Mass Characterized With Lymph Node Involvement by Niemann-Pick Cells
İnci, Asli, Okur, İlyas, Esendağli, Güldal, Okur, Arzu, Olgaç, Asburçe, Ezgü, Fatih S, Tümer, Leyla
Published in Journal of pediatric hematology/oncology (01.04.2018)
Published in Journal of pediatric hematology/oncology (01.04.2018)
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Expanding the clinical spectrum of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review
Kılıç, Mustafa, Dorum, Sevil, Topak, Ali, Yazıcı, Mutlu U., Ezgu, Fatih S., Coskun, Turgay
Published in American journal of medical genetics. Part A (01.07.2020)
Published in American journal of medical genetics. Part A (01.07.2020)
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Journal Article
Hematologic Findings of Inherited Metabolic Disease: They are More Than Expected
Sal, Ertan, Yenicesu, Idil, Okur, Ilyas, Kaya, Zuhre, Ezgu, Fatih S, Kocak, Ulker, Tumer, Leyla, Gursel, Turkiz, Hasanoglu, Alev
Published in Journal of pediatric hematology/oncology (01.07.2018)
Published in Journal of pediatric hematology/oncology (01.07.2018)
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Journal Article
Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey
Isiyel, Emel, Ezgu, Sevcan A. Bakkaloglu, Caliskan, Salim, Akman, Sema, Akil, Ipek, Tabel, Yilmaz, Akinci, Nurver, Ozdogan, Elif Bahat, Ozel, Ahmet, Eroglu, Fehime Kara, Ezgu, Fatih S.
Published in Molecular genetics and metabolism (01.12.2016)
Published in Molecular genetics and metabolism (01.12.2016)
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Journal Article
Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide
Eminoglu, Tuba F, Tumer, Leyla, Okur, Ilyas, Ezgu, Fatih S, Biberoglu, Gursel, Hasanoglu, Alev
Published in Forensic science international (15.07.2011)
Published in Forensic science international (15.07.2011)
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Journal Article
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R
Hasanoglu, Alev, Balwani, Manisha, Kasapkara, Çiğdem S, Ezgü, Fatih S, Okur, İlyas, Tümer, Leyla, Çakmak, Alpay, Nazarenko, Irina, Yu, Chunli, Clavero, Sonia, Bishop, David F, Desnick, Robert J
Published in Journal of inherited metabolic disease (01.02.2011)
Published in Journal of inherited metabolic disease (01.02.2011)
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Journal Article
Hafif Renal Varyant ile Karakterize Pierson Sendromu: Olgu Sunumu
Published in Gazi tıp dergisi
(01.07.2021)
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Journal Article
Updated interim safety, biomarker, and efficacy data from Imagine-1: A phase 1/2 open-label, multicenter study to assess the safety, tolerability, and efficacy of a single dose, intra-cisterna magna (ICM) administration of PBGM01 in subjects with type I (early onset) and type IIA (late onset) infantile GM1 gangliosidosis (GM1)
Jarnes, Jeanine R., Hastings, Caroline A., Ficicioglu, Can H., Day-Salvatore, Debra-Lynn, Giugliani, Roberto, Baruteau, Julien, Whitley, Chester B., Inbar-Feigenberg, Michal, Bernard, Geneviève, Ezgü, Fatih S., Ni, Yan G., Miller, Michelle, Gelb, Michael H., Nagilla, Pruthvi, Johnstone, Rose, Elsasser, Patricia, Cunningham, Elizabeth, Ballard, Victoria, Haws, Thomas F., Forman, Mark S., Weinstein, David A.
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
The co-existence of Fabry and celiac diseases: a case report
Tümer, Leyla, Ezgü, Fatih S, Hasanoğlu, Alev, Dalgiç, Buket, Bakkaloğlu, Sevcan A, Memiş, Leyla, Dursun, Ayşe
Published in Pediatric nephrology (Berlin, West) (01.06.2004)
Published in Pediatric nephrology (Berlin, West) (01.06.2004)
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Journal Article
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation
Yıldız, Çisem, Gezgin Yıldırım, Deniz, Inci, Asli, Tümer, Leyla, Cengiz Ergin, Filiz Basak, Sunar Yayla, Emine Nur Sunar, Esmeray Şenol, Pelin, Karaçayır, Nihal, Eğritaş Gürkan, Ödül, Okur, Ilyas, Ezgü, Fatih S, Bakkaloğlu, Sevcan A
Published in Joint bone spine (01.01.2023)
Published in Joint bone spine (01.01.2023)
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Serum Carnitine Levels in Newborns with Perinatal Asphyxia and Relation to Neurologic Prognosis
Ezgü, F.S., Atalay, Y., Hasanoğlu, A., Gücüyener, K., Biberoğlu, G., Koç, E., Ergenekon, E., Tümer, L.
Published in Nutritional neuroscience (01.10.2004)
Published in Nutritional neuroscience (01.10.2004)
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