Publications by authors named "Sevil Dorum"

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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, Sevil Dorum

Turk J Med Sci· July 2025

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Central nervous system complications during treatment in childhood acute leukemia.
Arzu Ekici, Bilgen Ayan, Elif Güler Kazancı, Zeynep Beyza Kuşku, Cengiz Gökhan Orcan, Sevil Dorum

Acta Neurol Belg· February 2025

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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, Sevil Dorum

Mol Genet Metab· June 2024

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Clinical significance of hypouricemia in children and adolescents.
Adem Yasin Köksoy, Özlem Görükmez, Sevil Dorum

Pediatr Nephrol· September 2023

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Case series of arginase 1 deficiency: Expanding the spectrum in hyperargininemia.
Sevil Dorum, Cengiz Havalı

Pediatr Int· January 2022

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Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants.
Sevil Dorum, Hakan Erdoğan, Adem Yasin Köksoy, Ali Topak, Özlem Görükmez

Pediatr Int· January 2022

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Newly defined peroxisomal disease with novel mutation.
Ozlem Gorukmez, Cengiz Havalı, Orhan Gorukmez, Sevil Dorum

J Pediatr Endocrinol Metab· January 2022

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Approaches for diagnosis and treatment in neurotransmitter disorders of childhood.
Cengiz Havalı, Sevil Dorum, Arzu Ekici, Özlem Görükmez

Metab Brain Dis· December 2021

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Expanding the clinical spectrum in trichohepatoenteric syndrome.
Sevil Dorum, Ozlem Gorukmez

Am J Med Genet A· October 2021

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Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations.
Cengiz Havali, Arzu Ekici, Sevil Dorum, Özlem Görükmez, Ali Topak

Neurol Res· September 2021

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Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings.
Sevil Dorum, Cengiz Havalı, Özlem Görükmez, Orhan Görükmez

Turk J Pediatr· August 2021

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Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.
Pelin Teke Kısa, Gonca Kilic Yildirim, Burcu Ozturk Hismi, Sevil Dorum, Ozge Yilmaz Kusbeci

Metab Brain Dis· August 2021

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Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.
Pelin Teke Kisa, Mehmet Gunduz, Sevil Dorum, Ozlem Unal Uzun, Nafiye Emel Cakar

Eur J Med Genet· May 2021

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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.
Mustafa Kılıç, Sevil Dorum, Ali Topak, Mutlu U Yazıcı, Fatih S Ezgu

Am J Med Genet A· July 2020

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May PEHO Syndrome be a Clinical Entity Associated with Early Onset Encephalopathies?
Arzu Ekici, İlyas Yılmaz, Orhan Görükmez, Cengiz Gökhan Orcan, Sevil Dorum

Ann Indian Acad Neurol· June 2020

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Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.
Cengiz Havali, Sevil Dorum, Yılmaz Akbaş, Orhan Görükmez, Tugba Hirfanoglu

J Pediatr Endocrinol Metab· March 2020

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Glutathione synthetase deficiency: a novel mutation with femur agenesis.
Ipek Guney Varal, Pelin Dogan, Orhan Gorukmez, Sevil Dorum, Arzu Akdag

Fetal Pediatr Pathol· February 2020

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A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency.
Sevil Dorum, Ipek Güney Varal, Orhan Gorukmez, Pelin Dogan, Arzu Ekici

J Pediatr Endocrinol Metab· July 2019

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Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.
Halil Sağlam, Şahin Erdöl, Sevil Dorum

J Clin Res Pediatr Endocrinol· September 2017

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Reference values of serum cystatin-C for full-term and preterm neonates in Istanbul.
Sevil Dorum, Ibrahim Silfeler, Bayram Ali Dorum, Dilek B Silfeler, Yekta Canbak

Indian J Pediatr· August 2012

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