Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family
Cesur Baltacı, Hande Nur, Taşdelen, Elifcan, Topçu, Vehap, Eminoğlu, Fatma Tuba, Karabulut, Halil Gürhan
Published in Journal of Pediatric Endocrinology & Metabolism (26.05.2021)
Published in Journal of Pediatric Endocrinology & Metabolism (26.05.2021)
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Journal Article
Inherited metabolic disorders in the neonatal intensive care unit: Red flags to look out for
Eminoğlu, Fatma Tuba, Koç Yekedüz, Merve, Doğulu, Neslihan, Öncül, Ümmühan, Köse, Engin, Okulu, Emel, Erdeve, Ömer, Atasay, Begüm, Arsan, Saadet
Published in Pediatrics international (01.01.2022)
Published in Pediatrics international (01.01.2022)
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Journal Article
TMEM70 deficiency: long-term outcome of 48 patients
Magner, Martin, Dvorakova, Veronika, Tesarova, Marketa, Mazurova, Stella, Hansikova, Hana, Zahorec, Martin, Brennerova, Katarina, Bzduch, Vladimir, Spiegel, Ronen, Horovitz, Yoseph, Mandel, Hanna, Eminoğlu, Fatma Tuba, Mayr, Johannes Adalbert, Koch, Johannes, Martinelli, Diego, Bertini, Enrico, Konstantopoulou, Vassiliki, Smet, Joél, Rahman, Shamima, Broomfield, Alexander, Stojanović, Vesna, Dionisi-Vici, Carlo, van Coster, Rudy, Morava-Kozicz, Eva, Sperl, Wolfgang, Zeman, Jiri, Honzik, Tomas
Published in Journal of inherited metabolic disease (01.05.2015)
Published in Journal of inherited metabolic disease (01.05.2015)
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Journal Article
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature
Sürücü Kara, İlknur, Köse, Engin, Çavdarlı, Büşranur, Eminoğlu, Fatma Tuba
Published in Journal of Pediatric Endocrinology and Metabolism (25.03.2024)
Published in Journal of Pediatric Endocrinology and Metabolism (25.03.2024)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series
Doğulu, Neslihan, Tuna Kırsaçlıoğlu, Ceyda, Köse, Engin, Ünlüsoy Aksu, Aysel, Kuloğlu, Zarife, Kansu, Aydan, Eminoğlu, Fatma Tuba
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2021)
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2021)
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Journal Article