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akaturk Akademik ölçüm

Akademisyen profili · PROFESÖR

AYŞE ÇİĞDEM AKTUĞLU ZEYBEK

İSTANBUL ÜNİVERSİTESİ-CERRAHPAŞA

  • CERRAHPAŞA TIP FAKÜLTESİ
  • DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
Makale YÖKSİS 133
Proje 1
Kitap 28
Bildiri 350
Patent 1
Sanatsal 1
Scopus (SJR)
Q1 27 Q2 37 Q3 35 Q4 16
WoS (JCR)
Q1 21 Q2 23 Q3 30 Q4 39
TR Index 26 makale

Scopus (SJR)

WoS (JCR)

TR Index

26 makale

Toplam 133 yayın

Makaleler

  1. 2026 Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease European Journal of Pediatrics DOI 10.1007/s00431-026-07081-4
  2. 2026 Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond Metabolic Brain Disease DOI 10.1007/s11011-026-01827-7
  3. 2026 Shifting Towards Empagliflozin First‐Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real‐World Study. Journal of Inherited Metabolic Disease DOI 10.1002/jimd.70198
  4. 2026 Is mild citrullinemia type I truly benign? a study of long-term clinical outcomes Journal of Pediatric Endocrinology and Metabolism DOI 10.1515/jpem-2025-0722
  5. 2026 Pediatric Case Series with Early‑Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects Annals of Indian Academy of Neurology DOI 10.4103/aian.aian_683_25
  6. 2026 Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening Orphanet Journal of Rare Diseases DOI 10.1186/s13023-026-04308-3
  7. 2025 Beyond the cataract: Comprehensive ophthalmologic and retinal imaging analysis in cerebrotendinous xanthomatosis Journal of Clinical Lipidology DOI 10.1016/j.jacl.2025.05.008
  8. 2025 Pediatric Case Series with Early‑Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects Annals of Indian Academy of Neurology DOI 10.4103/aian.aian_683_25
  9. 2025 The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder European Journal of Pediatrics DOI 10.1007/s00431-025-06216-3
  10. 2025 Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review Molecular Syndromology DOI 10.1159/000550055
  11. 2025 Long‐Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response Journal of Inherited Metabolic Disease DOI 10.1002/jimd.70069
  12. 2025 Pediatric Case Series with Early‑Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects Annals of Indian Academy of Neurology DOI 10.4103/aian.aian_683_25
  13. 2025 Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives Journal of Inherited Metabolic Disease DOI 10.1002/jimd.70009
  14. 2025 Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long‐term outcomes. Pediatrics International DOI 10.1111/ped.70211
  15. 2025 Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study Molecular Genetics and Metabolism Reports DOI 10.1016/j.ymgmr.2025.101199
  16. 2025 Revealing BCKDK Deficiency Under Autism: A Case Report, Therapeutic Outcomes, and Literature Review Turkish Archives of Pediatrics DOI 10.5152/TurkArchPediatr.2025.25325
  17. 2025 Revealing BCKDK Deficiency Under Autism: A Case Report, Therapeutic Outcomes, and Literature Review Turkish Archives of Pediatrics DOI 10.5152/TurkArchPediatr.2025.25325
  18. 2025 Neurodevelopmental Impact of Pesticides: A Silent Threat Turkish Archives of Pediatrics DOI 10.5152/TurkArchPediatr.2025.1112252
  19. 2025 Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye TURKISH JOURNAL OF MEDICAL SCIENCES DOI 10.55730/1300-0144.6005
  20. 2025 Impact of individualized and supervised strength training on muscle physiology, metabolic control and quality of life in metabolic myopathies Scientific Reports DOI 10.1038/s41598-025-11361-8

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