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EGE ÜNİVERSİTESİ TIP FAKÜLTESİ DAHİLİ TIP BİLİMLERİ BÖLÜMÜ

Ana Dal Sağlık Bilimleri Temel Alanı
Yan Dal Çocuk Metabolizma Hastalıkları (Çocuk Sağlığı ve Hastalıkları)

Kayıtlı çıktılara kısa bakış — ayrıntılar aşağıda.

Makale 79
Proje 0
Kitap 7
Bildiri 97
Patent 0
Sanatsal 0

Scopus (SJR) Q1 17 Q2 20 Q3 29 Q4 2

WoS (JCR) Q1 8 Q2 16 Q3 17 Q4 26

TR Index 27 makale

Alan+yıl+tür normalize OpenAlex yüzdelik — Clarivate ESI / SciVal değildir.

Üst %1 makale 0

Üst %10 makale 2

Ort. yüzdelik 53.4%

Üst %1 payı 0.0%

Üst %10 payı 25.0%

Makaleler

YÖKSİS ve OpenAlex kaynak ayrımıyla makaleler; quartile ve TR Index ile daraltabilirsiniz.

Makale listesi

17 / 79 makale

2025 Insights into skeletal involvement in adult Gaucher disease: a single-center experience JOURNAL OF BONE AND MINERAL METABOLISM DOI 10.1007/s00774-024-01573-9 YÖKSİS SJR Q2 JCR Q3 OpenAlex 61.9%
2025 EVALUATION OF EXPERIENCED CLINICAL EVENTS IN POMPE DISEASE BASED ON REAL-LIFE DATA Neuropediatrics DOI 10.1055/a-2777-2932 YÖKSİS SJR Q2 JCR Q3 OpenAlex 55.0%
2025 Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM DOI 10.1515/jpem-2025-0352 YÖKSİS SJR Q3 JCR Q3
2025 Next generation sequencing in children with isolated congenital cataract EUROPEAN JOURNAL OF OPHTHALMOLOGY DOI 10.1177/11206721251340844 YÖKSİS SJR Q2 JCR Q3
2024 Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form Journal of Pediatric Endocrinology and Metabolism DOI 10.1515/jpem-2023-0298 YÖKSİS SJR Q2 JCR Q3
2024 Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease Pediatr International DOI 10.1111/ped.15832. YÖKSİS SJR Q3 JCR Q3
2024 Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease Pediatr International DOI 10.1111/ped.15832. YÖKSİS SJR Q3 JCR Q3
2024 Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl Journal of Clinical Research in Pediatric Endocrinology DOI 10.4274/jcrpe.galenos.2022.2022-9-12 YÖKSİS TR Index SJR Q2 JCR Q3
2023 Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG Journal of Pediatric Endocrinology and Metabolism DOI 10.1515/jpem-2022-0641 YÖKSİS SJR Q2 JCR Q3
2021 Two siblings with galactose mutarotase deficiency: Clinical differences JIMD Reports DOI 10.1002/jmd2.12263 YÖKSİS SJR Q3 JCR Q3
2020 SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey Molecular Genetics and Metabolism Reports DOI 10.1016/j.ymgmr.2020.100657 YÖKSİS SJR Q3 JCR Q3
2019 Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases Eur J Med Genet DOI 10.1016/j.ejmg.2019.103725 YÖKSİS SJR Q1 JCR Q3
2018 Patients with Gaucher type 1: Switching from imiglucerase to miglustat therapy Blood Cells, Molecules, and Diseases DOI 10.1016/j.bcmd.2017.01.007 YÖKSİS SJR Q2 JCR Q3
2018 Coexistence of Gaucher disease and severe congenital neutropenia Blood Cells, Molecules, and Diseases DOI 10.1016/j.bcmd.2018.07.001 YÖKSİS SJR Q2 JCR Q3
2018 Single center experience of biotinidase deficiency: 259 patients and six novel mutations Journal of Pediatric Endocrinology and Metabolism DOI 10.1515/jpem-2018-0148 YÖKSİS SJR Q2 JCR Q3
2017 A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: Late-onset biotinidase deficiency Metabolic Brain Disease DOI 10.1007/s11011-017-9984-5 YÖKSİS SJR Q2 JCR Q3
2014 Molecular analysis in X-linked adrenoleukodystrophy patients: Identification of a novel mutation Metabolic Brain Disease DOI 10.1007/s11011-014-9552-1 YÖKSİS SJR Q2 JCR Q3

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