Dr. Öğr. Üyesi AYŞE AKYÜZ

Yayın Ağı

Makaleler 15

1. Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers' burnout and resilience

Özsaydi Aktaşoğlu E., AKYÜZ A., Gökalp S., Altun A. N., Demi̇r F., Gönen E., et al.

BMC pediatrics , cilt.26, sa.1, 2026 (SCI-Expanded, Scopus)

2. Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study

Akyüz A., Emecen Şanlı M., Aktaşoğlu E. Ö., GÖKALP S., BİBEROĞLU G., İNCİ A., et al.

Clinical Pediatrics , cilt.65, sa.2, ss.208-215, 2026 (SCI-Expanded, Scopus)

3. Phenotypes of Elosulfase Alfa-Induced Immediate Hypersensitivity Reactions and Long-Term Outcomes of Desensitization in Mucopolysaccharidosis IVA

ERTOY KARAGÖL H. İ., İNCİ A., Koken G., Polat Terece S., Demir F., AKYÜZ A., et al.

International Archives of Allergy and Immunology , ss.1-10, 2026 (SCI-Expanded, Scopus)

4. Mucopolysaccharidosis or Skeletal Dysplasia?: Important Clinical and Radiologic Clues for Differential Diagnosis of Based on Difficult Cases.

Akyüz A., Atalar H., Çilesiz K., İnci A., Okur İ., Tümer L., et al.

Journal of clinical research in pediatric endocrinology , 2025 (SCI-Expanded, Scopus, TRDizin)

5. Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert

Akyüz A., İNCİ A., OKUR İ., TÜMER L., EZGÜ F. S.

Orphanet Journal of Rare Diseases , cilt.20, sa.1, 2025 (SCI-Expanded, Scopus)

6. Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes

Akyüz A., OKUR İ., TÜMER L., EMİNOĞLU F. T., KÖSE E., ERGİN F. B., et al.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.184, sa.9, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

7. A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes

Sandal S., KAYHAN G., Kahvecioglu D., Vezir E., Kilic A., Kose A., et al.

MOLECULAR SYNDROMOLOGY , cilt.15, sa.5, ss.427-431, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

8. New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography

Özsaydl Aktaşoǧlu E., Klllç A., Emecen Sanll M., Inci A., Aktaş E., AKDULUM İ., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.37, sa.9, ss.820-824, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

9. A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review

GÖKALP S., İNCİ A., KILIÇ A., Ozsaydi E., ALTUN A. N., DEMİR F., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.37, sa.6, ss.571-574, 2024 (SCI-Expanded, Scopus)

10. Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy

KILIÇ A., Emecen Sanli M., Ozsaydl Aktasoglu E., GÖKALP S., BİBEROĞLU G., Inci A., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.37, sa.5, ss.413-418, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

11. Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy

Emecen Sanli M., Kılıç A., İnci A., Okur İ., Ezgü F. S., Tümer L.

Journal of Pediatric Endocrinology and Metabolism , cilt.36, sa.7, ss.650-658, 2023 (SCI-Expanded, Scopus)

12. Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease

Karagol H. I. E., İnci A., Terece S. P., Kılıç A., Demir F., Yapar D., et al.

International Archives of Allergy and Immunology , cilt.184, sa.4, ss.370-375, 2023 (SCI-Expanded, Scopus)

13. Assessment of auditory functions in patients with hepatic glycogen storage diseases

ŞANLI M. E., YILDIRIM GÖKAY N., TUTAR H., GÜNDÜZ B., ÖZSAYDI AKTAŞOĞLU E., KILIÇ A., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.64, sa.4, ss.658-670, 2022 (SCI-Expanded, Scopus, TRDizin)

14. Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1

ŞANLI M. E., Cengiz B., Kilic A., Ozsaydi E., Inci A., Okur İ., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.4, ss.497-503, 2022 (SCI-Expanded, Scopus)

15. First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient

Sanli M. E., ERTOY KARAGÖL H. İ., KILIÇ A., Aktasoglu E., İNCİ A., OKUR İ., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.2, ss.273-277, 2022 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 3

1. Retargeting phenylbutyrate, ursodeoxycholic acid, pyrimethamine and betaine for beta-glucocerebrosidaserecovery in gaucher disease fibroblasts resulting from homozygous p.L483P mutation

Kiliç A., BİBEROĞLU G., ÖKTEM R. M., İNCİ A., Aydogdu S., Udgu Isik B., et al.

SSIEM Annual Symposium, Almanya, 30 Ağustos - 02 Eylül 2022, sa.1418955, (Tam Metin Bildiri)

2. Gastrointestinal Involvement at the Junction of Wolman Disease and COVID 19

ALTUN A., İNCİ A., KILIÇ A., Özsaydı Aktaşoğlu E., GÖKALP S., DEMİR F., et al.

14th International Congress Of Inborn Errors Of Metabolism, Sidney, Avustralya, 21 - 23 Kasım 2021, (Tam Metin Bildiri) Sürdürülebilir Kalkınma

3. Pompe Hastalarında Enzim Replasman Tedavisine Bağlı Anafilaksi ve Yönetimi:Tek Merkez Deneyim

ERTOY KARAGÖL H. İ., İNCİ A., Polat Tecere S., KILIÇ A., Demir F., YAPAR D., et al.

XXVIII. Ulusal Alerji ve Klinik İmmünoloji kongresi, Türkiye, 13 - 17 Ekim 2021, (Özet Bildiri)

Metrikler

Yayın

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

Atıf (Scholar)

H-İndeks (Scholar)

Proje

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

Yayınlar & Eserler