Publications by authors named "Fatma D Bulut"

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Correction to: When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children.
Rabia Miray Kisla Ekinci, Sibel Balci, Aybuke Alisan, Fatih Gurbuz, Eda Mengen, Fatma Derya Bulut

Eur J Pediatr· December 2025

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When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.
Rabia Miray Kisla Ekinci, Sibel Balci, Aybuke Alisan, Fatih Gurbuz, Eda Mengen, Fatma Derya Bulut

Eur J Pediatr· November 2025

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First evaluation of fibroblast growth factor 21 levels in patients diagnosed with glycogen storage diseases with liver involvement.
Abdullah Bozkurt, Esra Kara, Fatma Derya Bulut, İrem Kaplan, Ezgi Burgac

J Pediatr Endocrinol Metab· October 2025

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Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.
Havva Yazıcı, Esra Kara, Fatma Derya Bulut, Merve Yoldaş Çelik, Burcu Köşeci

Diagnostics (Basel)· October 2025

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A novel homozygous missense variant in syndromic juvenile-onset diabetes.
Eda Mengen, Deniz Kor, Fatma Derya Bulut, Leman Damla Kotan, İhsan Turan

J Pediatr Endocrinol Metab· September 2025

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Feeding Models in Classical Phenylketonuria: Do They Make a Difference in Infant Sleep?
Ezgi Burgaç, Ebru Çiçek Türköz, Adnan Barutçu, Fatma Derya Bulut, Deniz Kor

Nutrients· September 2025

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A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.
Mehmet Cihan Balci, Deniz Kor, Yilmaz Yildiz, Meryem Karaca, Fatma Derya Bulut

Orphanet J Rare Dis· August 2025

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Clinical features and rare complications in 132 patients with hepatic glycogenosis.
Deniz Kor, Fatma Derya Bulut, Burcu Köşeci, Esra Kara, Ezgi Burgaç

Orphanet J Rare Dis· August 2025

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Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience.
Engin Demir, Fatma Derya Bulut, Berrak Bilginer-Gürbüz, Mehmet Ercüment Döğen, Ali İşlek

Mol Syndromol· August 2025

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Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.
Ozlem Anlas, Fatma Derya Bulut

Biochem Genet· August 2025

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Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Bianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl, Cigdem Arikan, Sarah M Bedoyan, Fatma Derya Bulut

Liver Int· July 2025

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Audiovestibular Findings in Gaucher Disease Types I and III: Evidence of Vestibular Involvement in GD1.
Elvan Onan, Fatma Derya Bulut, Deniz Kor, Muhammed Dagkiran, Caglar Eker

J Inherit Metab Dis· July 2025

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Neurological involvement in 51 cystinosis patients: A single-center experience.
Ezgi Burgac, Sonay Duran Yılmaz, Fatma Derya Bulut, Deniz Kor, Esra Kara

Eur J Paediatr Neurol· July 2025

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Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.
Ekin Özsaydi Aktaşoğlu, Aslı Inci, Rıdvan Murat Öktem, Gürsel Biberoğlu, İlyas Okur, Fatma Derya Bulut

Turk J Med Sci· July 2025

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Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, Isabelle Schrauwen, Hanan E Shamseldin, Fatma D Bulut

Am J Hum Genet· April 2025

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Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.
Ezgi Burgac, İrem Kaplan, Burcu Köseci, Esra Kara, Deniz Kor, Fatma Derya Bulut

Am J Med Genet A· June 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, Fatma Derya Bulut

Mol Genet Metab· June 2024

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Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria.
Fatma Derya Bulut, Deniz Kor, Sebile Kilavuz, Ebru Cicek, Burcu Koseci

J Paediatr Child Health· November 2023

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Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey.
Fatma Derya Bulut, Gülşah Seydaoğlu, Deniz Kor, Sebile Kılavuz, Aslı Boz

Arch Pediatr· October 2023

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Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.
Gülcihan Ozek, Serap Aksoylar, Sema Kalkan Uçar, Ebru Canda, Mediha Akcan, Fatma Derya Bulut

Pediatr Blood Cancer· July 2023

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Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis.
Fatma Derya Bulut, Deniz Kor, Sebile Kılavuz, Berna Şeker Yılmaz, İrem Kaplan

Eur J Med Genet· June 2023

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Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.
Sema Kalkan Uçar, Havva Yazıcı, Ebru Canda, Esra Er, Fatma Derya Bulut

JIMD Rep· September 2022

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A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation.
Esra Sarigecili, Fatma Derya Bulut, Ozlem Anlas

Clin Neurol Neurosurg· July 2022

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Evaluation of bone health in patients with mucopolysaccharidosis.
Deniz Kor, Fatma Derya Bulut, Sebile Kılavuz, Berna Şeker Yılmaz, Burcu Köşeci

J Bone Miner Metab· May 2022

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Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis.
Fatma Derya Bulut, Neslihan Ekşi Bozbulut, Özge Özalp, Buket Dalgiç, Neslihan Önenli Mungan

J Pediatr Endocrinol Metab· May 2022

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