Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease
Seker Yilmaz, Berna, Baruteau, Julien, Rahim, Ahad A, Gissen, Paul
Published in International journal of molecular sciences (17.07.2020)
Published in International journal of molecular sciences (17.07.2020)
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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
Predictors of Intractable Childhood Epilepsy
Seker Yilmaz, Berna, MD, Okuyaz, Cetin, MD, Komur, Mustafa, MD
Published in Pediatric neurology (2013)
Published in Pediatric neurology (2013)
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Journal Article
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
Seker Yilmaz, Berna, Baruteau, Julien, Chakrapani, Anupam, Champion, Michael, Chronopoulou, Efstathia, Claridge, Lee C., Daly, Anne, Davies, Catherine, Davison, James, Dhawan, Anil, Grunewald, Stephanie, Gupte, Girish L., Heaton, Nigel, Lemonde, Hugh, McKiernan, Pat, Mills, Philippa, Morris, Andrew A.M., Mundy, Helen, Pierre, Germaine, Rajwal, Sanjay, Sivananthan, Siyamini, Sreekantam, Srividya, Stepien, Karolina M., Vara, Roshni, Yeo, Mildrid, Gissen, Paul
Published in Molecular genetics and metabolism reports (01.12.2023)
Published in Molecular genetics and metabolism reports (01.12.2023)
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Journal Article
Novel therapies for mucopolysaccharidosis type III
Seker Yilmaz, Berna, Davison, James, Jones, Simon A., Baruteau, Julien
Published in Journal of inherited metabolic disease (01.01.2021)
Published in Journal of inherited metabolic disease (01.01.2021)
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Journal Article
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS
Kılavuz, Sebile, Bulut, Derya, Kor, Deniz, Şeker-Yılmaz, Berna, Özcan, Neslihan, Incecik, Faruk, Onan, Bilen, Ceylaner, Gülay, Önenli-Mungan, Neslihan
Published in Neuropediatrics (01.10.2021)
Published in Neuropediatrics (01.10.2021)
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Journal Article
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey
Seker Yilmaz, Berna, Mungan, Neslihan Onenli, Kor, Deniz, Bulut, Derya, Seydaoglu, Gülşah, Öktem, Murat, Ceylaner, Serdar
Published in Journal of Pediatric Endocrinology & Metabolism (28.03.2018)
Published in Journal of Pediatric Endocrinology & Metabolism (28.03.2018)
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Journal Article
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis
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
Published in European journal of medical genetics (01.06.2023)
Published in European journal of medical genetics (01.06.2023)
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Journal Article
Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys
Baruteau, Julien, Cunningham, Sharon C., Yilmaz, Berna Seker, Perocheau, Dany P., Eaglestone, Simon, Burke, Derek, Thrasher, Adrian J., Waddington, Simon N., Lisowski, Leszek, Alexander, Ian E., Gissen, Paul
Published in Molecular therapy. Methods & clinical development (10.12.2021)
Published in Molecular therapy. Methods & clinical development (10.12.2021)
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Journal Article
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
Kör, Deniz, Yılmaz, Berna Şeker, Bulut, Fatma Derya, Ceylaner, Serdar, Mungan, Neslihan Önenli
Published in Journal of Pediatric Endocrinology & Metabolism (26.07.2017)
Published in Journal of Pediatric Endocrinology & Metabolism (26.07.2017)
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Journal Article
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey
Bulut, Fatma Derya, Kör, Deniz, Şeker-Yılmaz, Berna, Hergüner, Özlem, Ceylaner, Serdar, Özkınay, Ferda, Kılavuz, Sebile, Önenli-Mungan, Neslihan
Published in Metabolic brain disease (01.08.2018)
Published in Metabolic brain disease (01.08.2018)
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Journal Article
Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects
Whitehouse, Abigail, Rehsi, Preeya, Hartley, Louise, Grunewald, Stephanie, Yilmaz, Berna Seker, Pegoretti Baruteau, Kelly, Yaman, Ayhan, Thavagnanam, Suren, Baruteau, Julien
Published in JIMD reports (01.07.2023)
Published in JIMD reports (01.07.2023)
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Journal Article
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations
Kör, Deniz, Şeker-Yılmaz, Berna, Bulut, Fatma Derya, Kılavuz, Sebile, Öktem, Murat, Ceylaner, Serdar, Yıldızdaş, Dinçer, Önenli-Mungan, Neslihan
Published in Turkish journal of pediatrics (2019)
Published in Turkish journal of pediatrics (2019)
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Journal Article