Early neuroimaging findings of infants diagnosed with inherited metabolic disorders in neonatal period: A case-control study
Koç Yekedüz, Merve, Şen Akova, Birsel, Köse, Engin, Doğulu, Neslihan, Öncül, Ümmühan, Okulu, Emel, Arsan, Saadet, Fitöz, Suat, Eminoğlu, Fatma Tuba
Published in Clinical neurology and neurosurgery (01.11.2022)
Published in Clinical neurology and neurosurgery (01.11.2022)
Get full text
Journal Article
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GNR gene: case report and review of literature
Sürücü Kara, İlknur, Köse, Engin, Çavdarlı, Büşranur, Eminoğlu, Fatma Tuba
Published in Journal of pediatric endocrinology & metabolism : JPEM (25.03.2024)
Published in Journal of pediatric endocrinology & metabolism : JPEM (25.03.2024)
Get full text
Journal Article
Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders
Eminoğlu, Fatma Tuba, Öncül, Ümmühan, Kahveci, Fevzi, Okulu, Emel, Kraja, Elvis, Köse, Engin, Kendirli, Tanıl
Published in Pediatric nephrology (Berlin, West) (01.06.2022)
Published in Pediatric nephrology (Berlin, West) (01.06.2022)
Get full text
Journal Article
Probable Miglustat-Induced Psychosis in a Child With Niemann-Pick Type C
Koç Yekedüz, Merve, Öncül, Ümmühan, Köse, Engin, Eminoğlu, Fatma Tuba
Published in Clinical neuropharmacology (01.07.2022)
Published in Clinical neuropharmacology (01.07.2022)
Get more information
Journal Article
Serum biotin interference: A troublemaker in hormone immunoassays
Öncül, Ümmühan, Eminoğlu, Fatma Tuba, Köse, Engin, Doğan, Özlem, Özsu, Elif, Aycan, Zehra
Published in Clinical biochemistry (01.01.2022)
Published in Clinical biochemistry (01.01.2022)
Get full text
Journal Article
Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant
Altıntaş, Mert, Yıldırım, Miraç, Uçar, Çiğdem İlter, Köse, Engin, Bektaş, Ömer, Teber, Serap
Published in Clinical neurology and neurosurgery (01.07.2023)
Published in Clinical neurology and neurosurgery (01.07.2023)
Get full text
Journal Article
Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center
Yüksel, Merve Feyza, Doğulu, Neslihan, Yıldırım, Miraç, Köse, Engin, Bektaş, Ömer, Eminoğlu, Fatma Tuba, Teber, Serap
Published in Brain & development (Tokyo. 1979) (01.06.2024)
Published in Brain & development (Tokyo. 1979) (01.06.2024)
Get full text
Journal Article
Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature
Kose, Engin, Besci, Ozge, Gudeloglu, Elif, Suncak, Suzan, Oymak, Yesim, Ozen, Selime, Isguder, Rana
Published in Journal of Pediatric Endocrinology & Metabolism (26.11.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (26.11.2020)
Get full text
Journal Article
A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity
Sürücü Kara, İlknur, Köse, Engin, Koç Yekedüz, Merve, Eminoğlu, Fatma Tuba
Published in Journal of Pediatric Endocrinology and Metabolism (27.11.2023)
Published in Journal of Pediatric Endocrinology and Metabolism (27.11.2023)
Get full text
Journal Article
Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis?
Koç Yekedüz, Merve, Köse, Engin, İnci, Aslı, Yüksel, Merve Feyza, Doğulu, Neslihan, Şen Akova, Birsel, Yeniay Süt, Nurşah, Öncül, Ümmühan, Yildirim, Miraç, Fitoz, Suat, Teber, Serap, Tümer, Leyla, Eminoğlu, Fatma Tuba
Published in Pediatric neurology (01.06.2024)
Published in Pediatric neurology (01.06.2024)
Get full text
Journal Article
Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study
Köse, Engin, Kasapkara, Çiğdem Seher, İnci, Aslı, Yıldız, Yılmaz, Sürücü Kara, İlknur, Kahraman, Ayça Burcu, Tümer, Leyla, Dursun, Ali, Eminoğlu, Fatma Tuba
Published in European journal of medical genetics (01.04.2024)
Published in European journal of medical genetics (01.04.2024)
Get full text
Journal Article
Evaluation of the efficacy and associated complications of regional citrate anticoagulation in neonates: experience from a fourth level neonatal intensive care unit
Köstekci, Yasemin Ezgi, Kendirli, Tanıl, Gün, Emrah, Uçmak, Hacer, Demirtaş, Ferhan, Havan, Merve, Köse, Engin, Okulu, Emel, Eminoğlu, Fatma Tuba, Erdeve, Ömer, Atasay, Begüm, Arsan, Saadet
Published in European journal of pediatrics (01.11.2023)
Published in European journal of pediatrics (01.11.2023)
Get full text
Journal Article
Pros and Cons of Telemedicine for Inherited Metabolic Disorders in a Developing Country During the COVID-19 Pandemic
Koç Yekedüz, Merve, Doğulu, Neslihan, Sürücü Kara, İlknur, Öncül, Ümmühan, Bakirarar, Batuhan, Kullu, Pinar, Ar, Yilmaz, Köse, Engin, Eminoğlu, Fatma Tuba
Published in Telemedicine journal and e-health (01.11.2022)
Published in Telemedicine journal and e-health (01.11.2022)
Get more information
Journal Article
Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index
Akış, Merve, Kant, Melis, Işık, İshak, Kısa, Pelin Teke, Köse, Engin, Arslan, Nur, İşlekel, Hüray
Published in Annals of clinical biochemistry (01.07.2020)
Published in Annals of clinical biochemistry (01.07.2020)
Get more information
Journal Article
Status dystonicus associated with CLN8 disease
Yıldırım, Miraç, Köse, Engin, Keçeli, Avni Merter, Balasar, Özgür, Şimşek, Nazmi
Published in Brain & development (Tokyo. 1979) (01.04.2021)
Published in Brain & development (Tokyo. 1979) (01.04.2021)
Get full text
Journal Article
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals
Zubarioglu, Tanyel, Kıykım, Ertuğrul, Köse, Engin, Eminoğlu, Fatma Tuba, Teke Kısa, Pelin, Balcı, Mehmet Cihan, Özer, Işıl, İnci, Aslı, Çilesiz, Kübra, Canda, Ebru, Yazıcı, Havva, Öztürk-Hişmi, Burcu, Bulut, Fatma Derya, Dorum, Sevil, Akgun, Abdurrahman, Yalçın-Çakmaklı, Gül, Kılıç-Yıldırım, Gonca, Soyuçen, Erdoğan, Akçalı, Aylin, Güneş, Dilek, Durmuş, Aslı, Gündüz, Ayşegül, Kasapkara, Çiğdem Seher, Göksoy, Emine, Akar, Halil Tuna, Ersoy, Melike, Erdöl, Şahin, Yıldız, Yılmaz, Hanağası, Haşmet Ayhan, Arslan, Nur, Aktuğlu-Zeybek, Çiğdem
Published in Molecular genetics and metabolism (01.06.2024)
Published in Molecular genetics and metabolism (01.06.2024)
Get full text
Journal Article