Caring for a Child with Phenylketonuria: Parental Experiences from a Eurasian Country
Zengin Akkus, Pinar, Bilginer Gurbuz, Berrak, Ciki, Kismet, Ilter Bahadur, Evin, Karahan, Sevilay, Ozmert, Elif Nursel, Coskun, Turgay, Sivri, Serap
Published in Journal of developmental and behavioral pediatrics (01.04.2020)
Published in Journal of developmental and behavioral pediatrics (01.04.2020)
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Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation
Küçükçongar Yavaş, Aynur, Engin Erdal, Ayşenur, Bilginer Gürbüz, Berrak, Ünlüsoy Aksu, Aysel, Kasapkara, Çiğdem Seher
Published in Journal of Pediatric Endocrinology and Metabolism (27.11.2023)
Published in Journal of Pediatric Endocrinology and Metabolism (27.11.2023)
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Evaluation of Lysosphingolipid Analysis for the Diagnosis of Lysosomal Storage Disease
Civelek-Ürey, Burcu, Kasapkara, Cigdem Seher, Biberoğlu, Gürsel, Öktem, Rıdvan Murat, Gunduz, Mehmet, Kıreker-Köylü, Oya, Yürek, Burak, Bilginer Gürbüz, Berrak, Tumer, Leyla
Published in Klinische Padiatrie (25.09.2024)
Published in Klinische Padiatrie (25.09.2024)
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Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency
Yılmaz, Begüm, Ceylan, Ahmet Cevdet, Gündüz, Mehmet, Ünal Uzun, Özlem, Küçükcongar Yavaş, Aynur, Bilginer Gürbüz, Berrak, Öncül, Ümmühan, Güleç Ceylan, Gülay, Kasapkara, Çiğdem Seher
Published in European journal of pediatrics (01.03.2024)
Published in European journal of pediatrics (01.03.2024)
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Journal Article
The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis
Bilginer Gurbuz, Berrak, Aypar, Ebru, Coskun, Turgay, Alehan, Dursun, Dursun, Ali, Tokatli, Aysegül, Sivri, Hatice Serap
Published in Journal of Pediatric Endocrinology & Metabolism (25.10.2019)
Published in Journal of Pediatric Endocrinology & Metabolism (25.10.2019)
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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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Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients
Gurbuz, Berrak Bilginer, Aypar, Ebru, Alehan, Dursun, Tokatli, Aysegul, Coskun, Turgay, Dursun, Ali, Sivri, H. Serap
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
Cognitive and behavioral impairment in mild hyperphenylalaninemia
Evinç, S Gülin, Pektaş, Emine, Foto-Özdemir, Dilşad, Yıldız, Yılmaz, Karaboncuk, Yamaç, Bilginer-Gürbüz, Berrak, Dursun, Ali, Tokatlı, Ayşegül, Coskun, Turgay, Öktem, Ferhunde, Sivri, H Serap
Published in Turkish journal of pediatrics (2018)
Published in Turkish journal of pediatrics (2018)
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Journal Article
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10
Gürbüz, Berrak Bilginer, Gülbakan, Basri, Özgül, Rıza Köksal, Yalnızoğlu, Dilek, Yılmaz, Didem Yücel, Göçmen, Rahşan, Koşukcu, Can, Kandemir, Nurgün, Acar, Neşe Vardar, Salih, Bekir, Dursun, Ali
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
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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
Does glutaric aciduria type 1 affect hearing function?
Özgedi̇k, Dilek Demiral, Tokgöz Yılmaz, Suna, Gürbüz, Berrak Bilginer, Si̇vri̇, H. Serap, Sennaroğlu, Gonca
Published in Metabolic brain disease (01.08.2022)
Published in Metabolic brain disease (01.08.2022)
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Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect
Yalnızoǧlu, Dilek, Özgül, R. Köksal, Oǧuz, Kader K., Özer, Buǧra, Yücel‐Yılmaz, Didem, Gürbüz, Berrak, Serdaroǧlu, Esra, Erol, İlknur, Topçu, Meral, Dursun, Ali
Published in Journal of inherited metabolic disease (01.03.2019)
Published in Journal of inherited metabolic disease (01.03.2019)
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Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy
BİLGİNER GÜRBÜZ, Berrak, AYKAN, H. Hakan, ÇIKI, Kısmet, KARAGÖZ, Tevfik, SİVRİ, Serap, DURSUN, Ali, TOKATLI, Ayşegül, COŞKUN, Turgay
Published in Cukurova Medical Journal (30.12.2021)
Published in Cukurova Medical Journal (30.12.2021)
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