Uzm. Dr. İsmail Hakkı Akbeyaz

Early Childhood Obesity: Multifactorial Influences with a Prominent Familial Contribution

Journal of Clinical Research in Pediatric Endocrinology, 2026

DOI 10.4274/jcrpe.galenos.2026.2025-12-23 PMID 41837715 Open-access full textSource: OpenAlex

Influenza-associated neurological complications in pediatric patients: clinical characteristics, outcomes, and the neuroinfluenza severity score in the multicenter TURK-INF study

European Journal of Pediatrics, 2026

DOI 10.1007/s00431-026-07411-6 PMID 42745076 Open-access full textSource: 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

Extreme ambient temperatures and seizure outcomes in children with epilepsy: insights from a survey in Turkey

Epilepsy & Behavior, 2026

DOI 10.1016/j.yebeh.2026.110982 PMID 41797236 1 citation (OpenAlex) Source: OpenAlex

Comparison of Nusinersen Monotherapy Versus Combination Therapy With Nusinersen and Onasemnogene Abeparvovec in Spinal Muscular Atrophy Type 1 Patients With Two SMN2 Copies: A Multicenter Study From Türkiye

Muscle & Nerve, 2026

DOI 10.1002/mus.70191 PMID 41757676 Source: OpenAlex

Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey

European Journal of Paediatric Neurology, 2026

DOI 10.1016/j.ejpn.2026.08.003 PMID 42580234 Source: OpenAlex

Identification of Cerebrotendinous Xanthomatosis in High-Risk Children Using a Suspicion Index–Based Screening Strategy

Research Square, 2026

DOI 10.21203/rs.3.rs-10809714/v1 Open-access full textSource: OpenAlex

1.56P Timing of therapy in sma type 1: longitudinal clinical and real-world insights

Neuromuscular Disorders, 2026

DOI 10.1016/j.nmd.2026.106641 Source: OpenAlex

1.30P Determinants of comorbidities influencing quality of life in pediatric neuropathy patients: implications for optimized follow-up strategies

Neuromuscular Disorders, 2026

DOI 10.1016/j.nmd.2026.106579 Source: OpenAlex

Personalized Management and Timing of Thymectomy in Juvenile Myasthenia Gravis: Insights from Routine Clinical Scale Use in a Single-Center Retrospective Cohort—A Case Series

Children, 2025

DOI 10.3390/children12101389 PMID 41153571 Open-access full textSource: OpenAlex

Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency

Journal of pediatric endocrinology & metabolism : JPEM, 2025

DOI 10.1515/jpem-2024-0515 PMID 39903824 1 citation (Europe PMC) Source: Europe PMC

What are The Barriers to Initiating or Sustaining The Ketogenic Diet in Pediatric Patients; Single Centre Experience

Çocuk Dergisi / Journal of Child, 2025

DOI 10.26650/jchild.2025.1722249 Open-access full textSource: OpenAlex

Comparison of Combination Therapy with Nusinersen and Onasemnogene Abeparvovec Versus Nusinersen Monotherapy in Spinal Muscular Atrophy Patients: A Multicenter Retrospective Study

Kocaeli Üniversitesi - AVESİS, 2025

Source: OpenAlex

Vascular perfusion abnormalities in an infant with spinal muscular atrophy type 0

Neuromuscular Disorders, 2025

DOI 10.1016/j.nmd.2025.106139 Source: ORCID

DNA Tamir Bozuklukları ve Görüntüleme Bulguları

Akademisyen Kitabevi eBooks, 2025

DOI 10.37609/akya.3272.c5632 Source: ORCID

Kohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review

Turkish archives of pediatrics, 2025

DOI 10.5152/turkarchpediatr.2025.25085 PMID 40960323 Open-access full textSource: Europe PMC

NARCOLEPSY

Turkiye Klinikleri eBooks, 2025

DOI 10.5336/978-625-395-803-9_p319 Source: OpenAlex

Epilepside Tanısal Yaklaşım

Akademisyen Kitabevi eBooks, 2024

DOI 10.37609/akya.3122.c12228 Source: ORCID

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

Nature Genetics, 2024

DOI 10.1038/s41588-024-01910-8 PMID 39313616 12 citations (OpenAlex) Open-access full textSource: OpenAlex

Knowledge, attitudes, and practice of general pediatricians and pediatric subspecialists towards oral health in children: a survey in Turkey

Journal of Clinical Pediatric Dentistry, 2024

DOI 10.22514/jocpd.2024.087 PMID 39087224 7 citations (OpenAlex) Open-access full textSource: OpenAlex

171P Newborn spinal muscular atrophy screening: 2-year results of multi-center experience in Turkey

Neuromuscular Disorders, 2024

DOI 10.1016/j.nmd.2024.07.615 1 citation (OpenAlex) Source: OpenAlex

Canpolat, Temel Pediatrik Epilepsi

Akademisyen Kitabevi eBooks, 2024

DOI 10.37609/akya.3122 Open-access full textSource: OpenAlex

Epilepsy surgery in pediatric patients: case series from a single institution

Türk nöroşirürji dergisi., 2024

DOI 10.5137/1019-5157.tnd.3328 Open-access full textSource: OpenAlex

Pediatric case of kelch-like protein 11 (KLHL11) encephalitis with long-term follow-up: pitfalls in diagnosis of pediatric autoimmune encephalitis

Nöro Psikiyatri Arşivi, 2024

DOI 10.29399/npa.28870 PMID 40583956 Open-access full textSource: OpenAlex

Permanent impairment of language in an adolescent case of autoimmune encephalitis

Nöro Psikiyatri Arşivi, 2022

DOI 10.29399/npa.28018 PMID 36514514 Open-access full textSource: OpenAlex

A case report of adolescent anti-NMDAR encephalitis with depressive symptoms (eng)

Journal of Clinical Psychiatry, 2022

DOI 10.5505/kpd.2022.83436 Open-access full textSource: OpenAlex

İnsan bokavirüs enfeksiyonu ilişkili ensefalit olgusu

Dspace Repository (Marmara Üniversitesi), 2022

Source: OpenAlex

Spontaneously Resolving Hyperreninemic Hypertension Caused by Accessory Renal Artery Stenosis in a 13‐Year‐Old Girl: A Case Report

Journal of Clinical Hypertension, 2016

DOI 10.1111/jch.12893 PMID 27528003 8 citations (OpenAlex) Open-access full textSource: OpenAlex