Wissenschaftliche Arbeiten

Doç. Dr. Nafiye Emel Çakar

37 Publikationen. Neben jeder Publikation steht die Quelle der Angabe.

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  1. A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2025-0654 PMID 42090597 Quelle: ORCID

  2. Vaccine antibody responses in children with inborn errors of metabolism on protein-restricted diets: an overlooked silent risk?

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2026-0219 PMID 42544393 Quelle: ORCID

  3. The silent threat in mucopolysaccharidosis: assessment of sleep quality and disorders

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2026-0186 PMID 42296296 Quelle: ORCID

  4. Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes

    The Italian Journal of Pediatrics/Italian journal of pediatrics, 2026

    DOI 10.1186/s13052-026-02284-9 PMID 42210298 Frei zugänglicher VolltextQuelle: OpenAlex

  5. Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort

    Molecular Genetics and Metabolism, 2026

    DOI 10.1016/j.ymgme.2026.110195 PMID 42361657 Quelle: OpenAlex

  6. Clinical, biochemical, and genetic perspectives in hepatic glycogen storage diseases: HEPA-GSD study

    Molecular Genetics and Metabolism, 2026

    DOI 10.1016/j.ymgme.2026.110286 PMID 42843180 Quelle: OpenAlex

  7. Pregnancy in women with inherited metabolic disorders: maternal and offspring outcomes with long-term follow-up

    Orphanet Journal of Rare Diseases, 2026

    DOI 10.1186/s13023-026-04691-x Frei zugänglicher VolltextQuelle: OpenAlex

  8. Sensitivity to food additives in autism spectrum disorder: effects and implications

    International Journal of Developmental Disabilities, 2025

    DOI 10.1080/20473869.2025.2499861 1 Zitation (OpenAlex) Quelle: ORCID

  9. Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease

    Frontiers in Neurology, 2025

    DOI 10.3389/fneur.2025.1657852 PMID 41438888 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: ORCID

  10. Mukopolisakkaridozis Tip IV Hastalarının Klinik İzlemlerinin Değerlendirilmesi

    Kocaeli Üniversitesi - AVESİS, 2025

    Frei zugänglicher VolltextQuelle: OpenAlex

  11. Alterations in optical coherence tomography and optical coherence tomography angiography findings in children with partial biotinidase deficiency

    Journal of Pediatric Endocrinology and Metabolism, 2024

    DOI 10.1515/jpem-2024-0261 PMID 39295163 Quelle: ORCID

  12. A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy

    Clinical Neurology and Neurosurgery, 2023

    DOI 10.1016/j.clineuro.2023.107712 PMID 37084649 4 Zitationen (OpenAlex) Quelle: OpenAlex

  13. Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes

    Clinical Neurology and Neurosurgery, 2023

    DOI 10.1016/j.clineuro.2023.107893 PMID 37455189 Quelle: OpenAlex

  14. Pediatrik Hastalıklara Özel Beslenme ve Diyet Yönetimi

    Akademisyen Kitabevi eBooks, 2022

    DOI 10.37609/akya.1406 Quelle: OpenAlex

  15. Geç Tanı Klasik Fenilketonüri Olgularımız ve Geç Tanı Nedenleri

    Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi, 2022

    DOI 10.17517/ksutfd.890252 1 Zitation (OpenAlex) Frei zugänglicher VolltextQuelle: ORCID

  16. Çocuklarda A’dan Z’ye Beslenme

    Akademisyen Kitabevi eBooks, 2021

    DOI 10.37609/akya.212 Quelle: OpenAlex

  17. Cytotoxic lesions of the corpus callosum in children: Etiology, clinical and radiological features, and prognosis

    Brain and Development, 2021

    DOI 10.1016/j.braindev.2021.05.001 PMID 34120800 23 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

  18. 3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation

    Annals of Indian Academy of Neurology, 2021

    DOI 10.4103/aian.aian_192_20 PMID 34447000 4 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: ORCID

  19. Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients

    European Journal of Medical Genetics, 2021

    DOI 10.1016/j.ejmg.2021.104197 PMID 33746036 11 Zitationen (Europe PMC) Quelle: ORCID

  20. CASES OF INBORN ERRORS OF METABOLISM DIAGNOSED IN CHILDREN WITH AUTISM

    Ideggyogyaszati Szemle, 2021

    DOI 10.18071/isz.74.0067 PMID 33497052 8 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: ORCID

  21. CAUSE OF RECURRENT RHABDOMYOLYSIS, CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY AND NOVEL PATHOGENIC MUTATION

    Ideggyogyaszati Szemle, 2021

    DOI 10.18071/isz.74.0135 PMID 33938664 2 Zitationen (Europe PMC) Quelle: ORCID

  22. Evaluation of Vaccination Status Among Children with Inborn Errors of Metabolism

    Bakirkoy Tip Dergisi / Medical Journal of Bakirkoy, 2021

    DOI 10.5222/bmj.2021.93723 2 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: ORCID

  23. POSSIBLE GENOTYPE-PHENOTYPE CORRELATIONS IN NIEMANN-PICK TYPE C PATIENTS AND MIGLUSTAT TREATMENT

    Ideggyogyaszati Szemle, 2021

    DOI 10.18071/isz.74.0139 PMID 33938663 1 Zitation (Europe PMC) Quelle: ORCID

  24. 66 Alkaptonüri Hastasının Klinik ve Moleküler Özellikleri

    Bursa Uludag University - AVESIS, 2021

    Quelle: OpenAlex

  25. A case of juvenile Canavan disease with distinct pons involvement

    Brain and Development, 2020

    DOI 10.1016/j.braindev.2019.11.009 PMID 31839386 6 Zitationen (Europe PMC) Quelle: ORCID

  26. A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation

    Brain and Development, 2020

    DOI 10.1016/j.braindev.2020.07.009 PMID 32747156 14 Zitationen (Europe PMC) Quelle: ORCID

  27. EVALUATION OF HEMATOLOGIC FINDINGS IN MUCOPOLYSACCHARIDOSIS CASES

    Acta Medica Mediterranea, 2020

    DOI 10.19193/0393-6384_2020_2_123 3 Zitationen (OpenAlex) Quelle: ORCID

  28. Evaluation of echocardiographic findings of fabry patients: A single center experience

    Annals of Medical Research, 2020

    DOI 10.5455/annalsmedres.2019.12.875 1 Zitation (OpenAlex) Frei zugänglicher VolltextQuelle: ORCID

  29. Novel variants in Turkish patients with glycogen storage disease

    Pediatrics International, 2020

    DOI 10.1111/ped.14286 PMID 32374048 8 Zitationen (Europe PMC) Quelle: ORCID

  30. P wave dispersion and ventricular repolarization changes in children with familial hypercholesterolemia

    Cardiology in the Young, 2020

    DOI 10.1017/s1047951120003765 PMID 33161938 2 Zitationen (Europe PMC) Quelle: ORCID

  31. Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: A single-center study in Turkey

    The Anatolian Journal of Cardiology, 2020

    DOI 10.14744/anatoljcardiol.2019.84782 PMID 32011328 10 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: ORCID

  32. Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the GLRX5 gene

    Neurology Asia, 2020

    Quelle: ORCID

  33. Türkiye'de Alkaptonüri: 66 Hastanın Klinik ve Genetik Özellikleri

    Kocaeli Üniversitesi - AVESİS, 2020

    Quelle: OpenAlex

  34. Evaluation of Echocardiographic Findings of Mucopolysaccharidosis Cases

    European Archives of Medical Research, 2019

    DOI 10.4274/eamr.galenos.2019.92486 4 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: ORCID

  35. The relationship between zinc and hepatic steatosis

    Journal of Surgery and Medicine, 2019

    DOI 10.28982/josam.608618 Frei zugänglicher VolltextQuelle: OpenAlex

  36. Features of multiple pregnancies obtained by in vitro fertilization or spontaneously

    Pediatrics International, 2014

    DOI 10.1111/ped.12372 PMID 24803145 3 Zitationen (Europe PMC) Quelle: ORCID

  37. MEFV mutations: An important genetic predisposing factor in Henoch-Schonlein Purpura

    2008

    Quelle: OpenAlex