Doç. Dr. Nafiye Emel Çakar

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 Source : ORCID

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 Source : ORCID

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 Source : ORCID

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 Texte intégral en libre accèsSource : OpenAlex

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 Source : OpenAlex

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 Source : OpenAlex

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 Texte intégral en libre accèsSource : OpenAlex

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

International Journal of Developmental Disabilities, 2025

DOI 10.1080/20473869.2025.2499861 1 citation (OpenAlex) Source : ORCID

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 citation (Europe PMC) Texte intégral en libre accèsSource : ORCID

Mukopolisakkaridozis Tip IV Hastalarının Klinik İzlemlerinin Değerlendirilmesi

Kocaeli Üniversitesi - AVESİS, 2025

Texte intégral en libre accèsSource : OpenAlex

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 Source : ORCID

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 citations (OpenAlex) Source : OpenAlex

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 Source : OpenAlex

Pediatrik Hastalıklara Özel Beslenme ve Diyet Yönetimi

Akademisyen Kitabevi eBooks, 2022

DOI 10.37609/akya.1406 Source : OpenAlex

Geç Tanı Klasik Fenilketonüri Olgularımız ve Geç Tanı Nedenleri

Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi, 2022

DOI 10.17517/ksutfd.890252 1 citation (OpenAlex) Texte intégral en libre accèsSource : ORCID

Çocuklarda A’dan Z’ye Beslenme

Akademisyen Kitabevi eBooks, 2021

DOI 10.37609/akya.212 Source : OpenAlex

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 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

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 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

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 citations (Europe PMC) Source : ORCID

CASES OF INBORN ERRORS OF METABOLISM DIAGNOSED IN CHILDREN WITH AUTISM

Ideggyogyaszati Szemle, 2021

DOI 10.18071/isz.74.0067 PMID 33497052 8 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

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

Ideggyogyaszati Szemle, 2021

DOI 10.18071/isz.74.0135 PMID 33938664 2 citations (Europe PMC) Source : ORCID

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 citations (OpenAlex) Texte intégral en libre accèsSource : ORCID

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 citation (Europe PMC) Source : ORCID

66 Alkaptonüri Hastasının Klinik ve Moleküler Özellikleri

Bursa Uludag University - AVESIS, 2021

Source : OpenAlex

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 citations (Europe PMC) Source : ORCID

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 citations (Europe PMC) Source : ORCID

EVALUATION OF HEMATOLOGIC FINDINGS IN MUCOPOLYSACCHARIDOSIS CASES

Acta Medica Mediterranea, 2020

DOI 10.19193/0393-6384_2020_2_123 3 citations (OpenAlex) Source : ORCID

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

Annals of Medical Research, 2020

DOI 10.5455/annalsmedres.2019.12.875 1 citation (OpenAlex) Texte intégral en libre accèsSource : ORCID

Novel variants in Turkish patients with glycogen storage disease

Pediatrics International, 2020

DOI 10.1111/ped.14286 PMID 32374048 8 citations (Europe PMC) Source : ORCID

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

Cardiology in the Young, 2020

DOI 10.1017/s1047951120003765 PMID 33161938 2 citations (Europe PMC) Source : ORCID

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 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

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

Neurology Asia, 2020

Source : ORCID

Türkiye'de Alkaptonüri: 66 Hastanın Klinik ve Genetik Özellikleri

Kocaeli Üniversitesi - AVESİS, 2020

Source : OpenAlex

Evaluation of Echocardiographic Findings of Mucopolysaccharidosis Cases

European Archives of Medical Research, 2019

DOI 10.4274/eamr.galenos.2019.92486 4 citations (OpenAlex) Texte intégral en libre accèsSource : ORCID

The relationship between zinc and hepatic steatosis

Journal of Surgery and Medicine, 2019

DOI 10.28982/josam.608618 Texte intégral en libre accèsSource : OpenAlex

Features of multiple pregnancies obtained by in vitro fertilization or spontaneously

Pediatrics International, 2014

DOI 10.1111/ped.12372 PMID 24803145 3 citations (Europe PMC) Source : ORCID

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

2008

Source : OpenAlex