Publications by authors named "Isil Ozer"

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Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response.
Tanyel Zubarioglu, Banu Kadıoğlu-Yılmaz, Engin Köse, Pelin Teke-Kısa, Mehmet Cihan Balcı

J Inherit Metab Dis· July 2025

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The Efficacy and Outcomes of Renal Replacement Therapy in Pediatric Metabolic Disorders.
Hülya Gözde Önal, Hülya Nalçacıoğlu, Işıl Özer, Demet Tekcan Karalı

J Clin Med· October 2024

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Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
Tanyel Zubarioglu, Ertuğrul Kıykım, Engin Köse, Fatma Tuba Eminoğlu, Pelin Teke Kısa

Mol Genet Metab· June 2024

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Refeeding Syndrome Developed in a Patient With Kwashiorkor Can Mimic Findings of Mitochondrial Disorder.
Işil Özer

Clin Med Insights Case Rep· April 2022

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As a Failure to Follow Basic Medical Rules for a Sample, Has a Costly Diagnosis of a Zoonosis.
Işil Özer

Clin Med Insights Case Rep· October 2021

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Interictal epileptiform discharges on electroencephalography in children with methylenetetrahydrofolate reductase (MTHFR) polymorphisms.
Elif Karatoprak, Gulhan Sozen, Kutluhan Yılmaz, Işıl Ozer

Neurol Sci· March 2020

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Sub-seasonal Levee Deformation Observed Using Satellite Radar Interferometry to Enhance Flood Protection.
Işıl E Özer, Stephan J H Rikkert, Freek J van Leijen, Sebastiaan N Jonkman, Ramon F Hanssen

Sci Rep· February 2019

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Retrospective approach to methylenetetrahydrofolate reductase mutations in children.
Işıl Özer, Mustafa Özçetin, Hatice Karaer, Semiha G Kurt, Şemsettin Şahin

Pediatr Neurol· July 2011

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Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Steven F Dobrowolski, Caroline Heintz, Trent Miller, Clinton Ellingson, Clifford Ellingson, Işıl Ozer

Mol Genet Metab· February 2011

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Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).
Johannes Sander, Nils Janzen, Michael Terhardt, Stefanie Sander, Gülden Gökcay, Isıl Ozer

Clin Chim Acta· January 2011

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Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.
Yoshiko Aoyama, Yoriko Endo, Tetsu Ebara, Toshio Murase, Yoon S Shin, Isil Ozer

Pediatr Int· February 2010

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Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.
Yoshiko Aoyama, Isil Ozer, Mubeccel Demirkol, Tetsu Ebara, Toshio Murase

J Hum Genet· November 2009

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