Yayınlar & Eserler

Yayın Ağı
Makaleler 39
Tümü (39)
SCI-E, SSCI, AHCI (27)
SCI-E, SSCI, AHCI, ESCI (38)
ESCI (9)
Scopus (32)
TRDizin (11)

1. Dietary supplement practices in children with inherited metabolic disorders receiving protein-restricted diets

Kulu B., Karalar Pekuz Ö. K., BİLEN M., Dinçtürk D. U., DEMİRDÖKEN E. D., TEKE KISA P., et al.
Clinical Nutrition ESPEN , cilt.75, 2026 (ESCI, Scopus)

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

Yilmaz-Gumus E., KILAVUZ S., Demir S., Aydogan A., Genc E., Akar H. T., et al.
MOLECULAR GENETICS AND METABOLISM , cilt.148, sa.4, 2026 (SCI-Expanded, Scopus)

3. Cerebrotendinous xanthomatosis and pregnancy: A multicenter study of maternal and neonatal outcomes with a focus on chenodeoxycholic acid treatment during gestation

ZÜBARİOĞLU T., Yalçın-Çakmaklı G., YILDIZ Y., BULUT F. D., KOR D., Yıldız S., et al.
Journal of Clinical Lipidology , cilt.20, sa.6, ss.1186-1195, 2026 (SCI-Expanded, Scopus)

4. Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study

Uçar S. K., Mungan N. Ö., Gökçay G. F., Zeybek A. Ç. A., KILAVUZ S., Güneş S., et al.
Journal of Inherited Metabolic Disease , cilt.49, sa.3, 2026 (SCI-Expanded, Scopus)

5. Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project

Yigit A., Pekerbas M., Salman B., Bulut K., Ozzeybek E., Topaloglu M. M., et al.
European Journal of Human Genetics , 2026 (SCI-Expanded, Scopus)

6. Ketogenic Diet in Niemann-Pick Type C: Insights From a Case Report.

KULU B., Kısa P., Er E., Pekuz S., Akisin Z., CEYLANER S., et al.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience , cilt.85, sa.6, 2025 (SCI-Expanded, Scopus)

7. Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response.

Zubarioglu T., Kadıoğlu-Yılmaz B., Köse E., Teke-Kısa P., Balcı M. C., Yazıcı H., et al.
Journal of inherited metabolic disease , cilt.48, sa.4, 2025 (SCI-Expanded, Scopus)

8. Ailevi Hiperkolesterolemili Vakaların Klinik ve Laboratuvar özelliklerinin Değerlendirilmesi: çok Merkezli Çalışma

akgün a., Uzunyayla G., Gücüyener N., Zubarioglu T., Ister M. B., Unal O., et al.
Dicle Tıp Dergisi , cilt.52, sa.2, ss.283-297, 2025 (TRDizin)

9. A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism

Şenol H. B., Klsa P., Kulu B., Ören H., Arslan N., Yiş U.
Molecular Syndromology , cilt.16, sa.1, ss.93-98, 2025 (SCI-Expanded, Scopus) Creative Commons License

10. Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene

Yalçın H. Y., Karabay U., Cinleti T., Teke Kısa P., Eğrilmez M., Ayaz A., et al.
Molecular Syndromology , cilt.16, sa.1, 2025 (SCI-Expanded, Scopus) Creative Commons License

11. Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye

Özsaydi Aktaşoğlu E., İNCİ A., ÖKTEM R. M., BİBEROĞLU G., OKUR İ., EZGÜ F. S., et al.
Turkish Journal of Medical Sciences , cilt.55, sa.3, ss.585-594, 2025 (SCI-Expanded, Scopus, TRDizin)

12. Fabry disease in familial Mediterranean fever according to the severity of the disease Enfermedad de Fabry en la fiebre mediterránea familiar según la gravedad de la enfermedad

Uslu S., Kabadayi G., Teke Kısa P., Yüce Inel T., Arslan Z., Arslan N., et al.
Reumatologia Clinica , cilt.20, sa.9, ss.484-489, 2024 (ESCI, Scopus) Creative Commons License

13. Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease

Kisa P., Hismi B. O., Kocabey M., Gulten Z. A., Huddam B., Ekinci S., et al.
American Journal of Medical Genetics, Part A , cilt.194, sa.7, 2024 (SCI-Expanded, Scopus) Creative Commons License

14. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals

Zübarioğlu T., Kıykım E., Köse E., Eminoğlu F. T., Teke Kısa P., Balcı M. C., et al.
Molecular Genetics and Metabolism , cilt.142, sa.2, 2024 (SCI-Expanded, Scopus) Creative Commons License

15. SCOT Deficiency Mimicking Sepsis: An Unusual Cause of Increased Anion Gap Metabolic Acidosis

TEKE KISA P., GÜRSOY S., SEVEN P., PİRİNÇ N., SARAÇ SANDAL Ö., ATAKUL G., et al.
JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES , cilt.8, ss.507-510, 2024 (ESCI, TRDizin) Creative Commons License

16. A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice

Ozler O., Egeli B. H., Zeybek S., Eris E., Teke Kisa P.
CLINICAL PEDIATRICS , cilt.62, sa.6, ss.537-540, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

17. Positive effects of ketogenic diet on weight control in children with obesity due to Prader-Willi syndrome

Teke Kısa P., Güzel O., Arslan N., Demir K.
CLINICAL ENDOCRINOLOGY , cilt.98, sa.3, ss.332-341, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

18. A challenging etiology of myopathy: The late-onset Pompe disease

YÜCE İNEL T., Koken Avsar A., TEKE KISA P., ÖZER E., SARI İ.
European Journal of Rheumatology , cilt.10, ss.26-28, 2023 (TRDizin) Creative Commons License

19. Investigating myelin oligodendrocyte glycoprotein antibodies in hereditary citrullinemia

Oncel I., Yousefi M., İNCİ A., ARSLAN GÜLTEN Z., TEKE KISA P., Karaca M., et al.
MEDICAL HYPOTHESES , cilt.160, 2022 (SCI-Expanded, Scopus)

20. Heterogeneity of PNPT1 neuroimaging: Mitochondriopathy, interferonopathy or both?

Pennisi A., Rötig A., Roux C., Lévy R., Henneke M., Gärtner J., et al.
Journal of Medical Genetics , cilt.59, sa.2, ss.204-208, 2022 (SCI-Expanded, Scopus) Creative Commons License

21. Phenylalanine Levels of Patients with Classical Phenylketonuria According to Eating Habits of Caregivers

TEKE KISA P., Çiçek A., Karagöz H., dağ m., güneş a., Yavaş G., et al.
Trends in pediatrics , cilt.2, sa.4, ss.154-158, 2022 (Scopus, TRDizin)

22. Efficacy of Phenylalanine- and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature.

Teke Kisa P., Eroglu Erkmen S., Bahceci H., Arslan Gulten Z., Aydogan A., Karalar Pekuz Ö. K., et al.
Annals of nutrition & metabolism , cilt.78, sa.1, ss.48-60, 2022 (SCI-Expanded, Scopus)

23. Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?

KÖSE E., Cagatay E., Yaras T., Kisa P., Guler S., Gulten Z. A., et al.
TURKISH JOURNAL OF MEDICAL SCIENCES , cilt.52, sa.4, ss.1075-1084, 2022 (SCI-Expanded, Scopus, TRDizin) Creative Commons License

24. Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement

GÜNAY Ç., PAKETÇİ C., EDEM P., Sarıkaya Uzun G., HIZ A. S., ARSLAN GÜLTEN Z., et al.
JOURNAL OF DR BEHCET UZ CHILDRENS HOSPITAL , cilt.12, sa.1, ss.27-36, 2022 (ESCI) Sürdürülebilir Kalkınma

25. Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises

Teke Kısa P., Ünal Uzun Ö., Gunduz M., Bulbul F. S., Köse E., Arslan N.
ARCHIVES DE PEDIATRIE , cilt.28, sa.8, ss.702-706, 2021 (SCI-Expanded, Scopus) Creative Commons License

26. Lipemia Retinalis Diagnosed Incidentally After Laser Photocoagulation Treatment for Retinopathy of Prematurity

Öztürk A. T., Karataş Yiğitaslan E., Teke Kısa P., Onay H., Saatci A. O.
TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY , cilt.51, sa.5, ss.313-316, 2021 (ESCI)

27. Inflammatory rheumatic diseases in patients with ochronotic arthropathy

Yüce İnel T., Kisa P., Balcı A., Uslu S., Arslan Gülten Z., Hismi B. O., et al.
MODERN RHEUMATOLOGY , cilt.31, sa.5, ss.1031-1037, 2021 (SCI-Expanded, Scopus)

28. Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement

Kisa P., Yildirim G. K., Öztürk Hişmi B., Dorum S., Kusbeci O. Y., Topak A., et al.
METABOLIC BRAIN DISEASE , cilt.36, sa.6, ss.1201-1211, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

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

Kisa P., Gunduz M., Dorum S., Uzun O. U., Cakar N. E., Yildirim G. K., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.64, sa.5, 2021 (SCI-Expanded, Scopus)

30. Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches

Kisa P., Arslan N.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.3, ss.277-294, 2021 (SCI-Expanded, Scopus)

31. Prematüre Retinopatisi Nedeniyle Lazer Fotokoagülasyon Tedavisi Sonrası Rastlantısal Olarak Tanı Alan Lipemia Retinalis

ÖZTÜRK A. T., KARATAŞ E., TEKE KISA P., ONAY H., SAATCİ A. O.
TURK OFTALMOLOJI GAZETESI , cilt.51, sa.5, 2021 (ESCI, Scopus, TRDizin)

32. Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index

Akış M., Kant M., Isik I., Kisa P., Kose E., Arslan N., et al.
ANNALS OF CLINICAL BIOCHEMISTRY , cilt.57, sa.4, ss.291-299, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

33. Role of Surveillance Screening in Detecting Tumor Recurrences After Treatment of Childhood Cancers

Teke Kısa P., Emir S.
TURK PEDIATRI ARSIVI , cilt.56, sa.2, ss.147-151, 2020 (ESCI, Scopus, TRDizin) Creative Commons License Sürdürülebilir Kalkınma

34. Serum Level of Biotin Rather than the Daily Dosage Is the Main Determinant of Interference on Thyroid Function Assays

Paketci A., Kose E., Calan Ö., Acar S., Teke P., Demirci F., et al.
HORMONE RESEARCH IN PAEDIATRICS , cilt.92, sa.2, ss.92-98, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

35. Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey

Kisa P., Kose M., Unal O., Er E., Hismi B. O., Bulbul F. S., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.32, sa.7, ss.675-681, 2019 (SCI-Expanded, Scopus) Creative Commons License

36. Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation

Kose E., Armagan C., Kisa P., Onay H., Arslan N.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.31, sa.11, ss.1289-1293, 2018 (SCI-Expanded, Scopus) Creative Commons License

37. Serum Level of Biotin Rather Than the Daily Dose Is the Main Determinant of the Interference on Thyroid Function Assays in Patients with Biotinidase Deficiency

Paketci A., Kose E., Calan Ö., Acar S., Teke P., Demirci F., et al.
HORMONE RESEARCH IN PAEDIATRICS , cilt.90, ss.613, 2018 (SCI-Expanded, Scopus)

38. The Effect of Large Neutral Amino Acids on Blood Phenylalanine Levels in Patients with Classical Phenylketonuria

Kisa P., Kose E., Ören N., Arslan N.
JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES , cilt.1, sa.3, ss.79-81, 2017 (ESCI, TRDizin) Creative Commons License

39. Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

Kisa P., Kose E., Atesoglu M., Arslan N.
JOURNAL OF PEDIATRIC RESEARCH , cilt.4, sa.2, ss.59-62, 2017 (ESCI, TRDizin) Creative Commons License
Kitaplar 10

1. Aminoasit Metabolizması Bozuklukları

TEKE KISA P., KARALAR PEKUZ Ö. K., ARSLAN N.
Tüm Yönleriyle Pediatri, TAŞTEKİN AYHAN, OLGUN HAŞİM, Editör, Anadolu Kitabevi, Ankara, ss.2419-2425, 2025

2. Yenidoğanda Kalıtsal Metabolik Hastalıklarda Hematolojik Bulgular

Karalar Pekuz Ö. K., Teke Kısa P., Arslan N.
Yenidoğanda Hematolojik ve Onkolojik Hastalıklara Yaklaşım - 2025, Hale Ören, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.127-135, 2025 Creative Commons License

3. Nadir Görülen Bir Peroksizomal Biyogenez Bozukluğu: Rizomelik Kondrodisplazi Punktata Tip 1 Olgu Sunumu

Uzun Dinçtürk D., KARALAR PEKUZ Ö. K., TEKE KISA P.
Türkiye Klinikleri-Peroksizomal Hastalıklar, DURSUN ALİ, ÜNAL UZUN ÖZLEM, Editör, Türkiye Klinikleri Pediatri Dergisi, Ankara, ss.108-110, 2025

4. Nadir bir hücresel trafik bozukluğu: NGLY1 eksikliği.

Er E., Teke Kısa P.
Hücre Trafiği Bozuklukları, Özlem Ünal, Editör, Türkiye Klinikleri Yayınevi, İstanbul, ss.57-58, 2024 Creative Commons License

5. Mukopolisakkaridoz Tip II

Bilen M., Teke Kısa P., Arslan N.
Mukopolisakkaridoz ve Oligosakkaridozlar 2024, Doç. Dr. Mehmet Gündüz, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.7-13, 2024 Creative Commons License

6. Galaktozemi

Teke Kısa P.
Çocuk-Ergen Sağlığı ve Hastalıklar, Prof. Dr. Cengiz YAKINCI Doç. Dr. Şükrü GÜNGÖR, Editör, Nobel Kitap Evi, Ankara, ss.745-747, 2023 Creative Commons License

7. Vitamin Metabolizma Bozuklukları

Arslan N., Teke Kısa P.
İzmir Dr. Behçet Uz Çocuk Hastanesi Pediatri, Behzat Özkan, Editör, Nobel Tıp Kitapevi, İzmir, ss.457-461, 2022 Creative Commons License

8. Kalitsal Metabolik Hastaliklarda Ketojenik Diyet

Teke Kısa P.
Cocukluk Cagi Epilepsilerinde Ketojenik Diyet Tedavisi, Unalp Aycan,Yılmaz Unsal, Editör, Akademisyen Yayınevi, İzmir, ss.141-150, 2021 Creative Commons License

9. Yoğun Bakım Sorunları ve Tedavileri

Teke Kısa P., Arslan N.
Güneş Kitabevi, İstanbul, 2020 Creative Commons License

10. KALITSAL METABOLİZMA HASTALIKLARI

Teke Kısa P., Arslan N.
Yogun Bakim Sorunlari ve Tedavileri (Sahinoglu), Prof. Dr. Ali Haydar Şahinoğlu,Prof. Dr. Akın Kaya,Doç. Dr. Gökhan Kalkan,Dr. Öğr. Üyesi Özgür Kömürcü, Editör, Güneş Kitabevi, Ankara, ss.886-897, 2020 Creative Commons License