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Journal of Pediatric Endocrinology & Metabolism : JPEM|January 10, 2025
Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variantCemre Kara, Engin Köse, Fatma Tuba Eminoğlu
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 3, 2023
IGAm: A novel index predicting long-term survival in patients with early-diagnosed inherited metabolic disordersMerve Koç Yekedüz, Engin Köse, Fatma Tuba Eminoğlu
Clinical Neuropharmacology|June 13, 2022
Probable Miglustat-Induced Psychosis in a Child With Niemann-Pick Type CMerve Koç Yekedüz, Ümmühan Öncül, Engin Köse, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|January 22, 2024
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in <i>GRN</i> gene: case report and review of literatureİlknur Sürücü Kara, Engin Köse, Büşranur Çavdarlı, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 25, 2025
Retrospective assessment of hepatic involvement in patients with inherited metabolic disorders: nine-year single-center experienceSamira Bayramova, Merve Koç Yekedüz, Engin Köse, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|September 19, 2023
A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activityİlknur Sürücü Kara, Engin Köse, Merve Koç Yekedüz, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 16, 2021
Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosisNeslihan Doğulu, Ümmühan Öncül, Engin Köse, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 14, 2024
Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature reviewGülreyhan Sonuç Kartal, Merve Koç Yekedüz, Engin Köse, et al.
Brain & Development|December 28, 2020
Status dystonicus associated with CLN8 diseaseMiraç Yıldırım, Engin Köse, Avni Merter Keçeli, et al.
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