Engi̇n Köse

Boston Children's Hospital — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

15h-index667citations122works1.52yr avg
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Research Topics

Metabolism and Genetic Disorders(43), Lysosomal Storage Disorders Research(16), Folate and B Vitamins Research(15), Mitochondrial Function and Pathology(13), Amino Acid Enzymes and Metabolism(12)

Publications119 total

Personalized Low Protein Products Produced with a 3D Food Printer for Inherited Metabolic Diseases on Restricted Diet
Annals of Nutrition and Metabolism·2026
Structure, Biochemical Role and Importance of Carboxylase Class Enzymes in Metabolism
Uludağ Üniversitesi Tıp Fakültesi Dergisi·2025Open Access
Two Siblings with LRPPRC Mutation: Mitochondrial Complex IV Deficiency: Case Report
Molecular Syndromology·2025
Correction to: Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes
European Journal of Pediatrics·2025Open Access
Two Countries, One Metabolic Dilemma: Nutritional Management of Concurrent Maple Syrup Urine Disease and Type 1 Diabetes Mellitus
Journal of Clinical Research in Pediatric Endocrinology·2025Open Access
Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes
European Journal of Pediatrics·2025
Pseudohypertriglyceridemia as a clue: clinical and genetic spectrum of glycerol kinase deficiency in three pediatric cases
Journal of Pediatric Endocrinology and Metabolism·2025Open Access
Long‐Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response
Journal of Inherited Metabolic Disease·2025· 1 cited
NOD-m: a novel clinical score for predicting hearing loss in inherited metabolic disorders
European Archives of Oto-Rhino-Laryngology·2025Open Access
Methylene Blue for Refractory Shock in A Neonate
Zeitschrift für Geburtshilfe und Neonatologie·2025
The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder
European Journal of Pediatrics·2025· 1 citedOpen Access
Peroksizomal Hastalıkların Klinik Özellikleri ve Görüntüleme Bulguları
2025
Effect of empagliflozin treatment on laboratory and clinical findings of patients with glycogen storage disease type Ib: first study from Türkiye
Journal of Pediatric Endocrinology and Metabolism·2025· 2 citedOpen Access
Retrospective assessment of hepatic involvement in patients with inherited metabolic disorders: nine-year single-center experience
Journal of Pediatric Endocrinology and Metabolism·2025Open Access
Clinical and biochemical spectrum of APOB-related hypobetalipoproteinemia: Insights from a retrospective cohort study
Journal of clinical lipidology·2025· 2 cited
Real world reflections of the patient odyssey in alpha-mannosidosis: Insights and challenges in diagnosis from caregiver interviews
Molecular Genetics and Metabolism·2025
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders
Neurology·2025· 4 citedOpen Access
Clinical manifestations and molecular genetics of seven patients with Niemann–Pick type-C: a case series with a novel variant
Journal of Pediatric Endocrinology and Metabolism·2025Open Access
Challenges Faced by Newborns with Inherited Metabolic Disorders and Their Mothers During Antepartum, Intrapartum, and Postpartum Periods
Fetal and Pediatric Pathology·2025
Evaluation of scientific validity and appropriateness of artificial intelligence-assisted ChatGPT advices in dietary treatment of methylmalonic acidemia
Nutrición Hospitalaria·2025Open Access
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Frequent Co-authors

Fatma Tuba Eminoğlu(16), Nur Arslan(14), Nejat Aksu(7), Seda Şirin Köse(6), Melis Köse(6), Ümmühan Öncül(6), Neslihan Doğulu(6), Caner Alparslan(5), Önder Yavaşcan(5), Pelin Teke Kısa(5), İlknur Sürücü Kara(5), Ali Kanık(4), Orkide Güzel(4), Ünsal Yılmaz(4), Pınar Kuyum(4), Hüseyin Önay(4), Alkan Bal(3), Betül Aksoy(3), Mehmet Rami Helvacı(3), Aycan Ünalp(3)