Fatma Tuba Eminoğlu

Ankara University — Turkey

Biochemistry, Genetics and Molecular Biology · Life Sciences

13h-index584citations119works1.62yr avg

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Metabolism and Genetic Disorders(40), Lysosomal Storage Disorders Research(25), Mitochondrial Function and Pathology(14), Folate and B Vitamins Research(14), Neonatal Health and Biochemistry(11)

Publications119 total

Carboxypeptidase D deficiency causes hearing loss amenable to treatment

Journal of Clinical Investigation·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

1 cited

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

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha‐Mannosidosis

3 cited

Journal of Inherited Metabolic Disease·2025· 3 cited

Expert opinion on clinical presentation, diagnosis and treatment of infantile onset pompe disease: a delphi study in Türkiye

TURKISH JOURNAL OF MEDICAL SCIENCES·2025Open Access

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor

1 cited

Neurological Sciences·2025· 1 citedOpen Access

The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder

1 cited

European Journal of Pediatrics·2025· 1 citedOpen Access

Wolcott–Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure – a case report

1 cited

Journal of Pediatric Endocrinology and Metabolism·2025· 1 cited

Enhancing clinical decision-making: a scenario-based patient simulation study using QR code-based algorithms for the management of acute intoxication-type inborn errors of metabolism

The Turkish Journal of Pediatrics·2025Open Access

Canpolat&Karaman&Kardaş - Temel Pediatrik Nöroradyoloji Nörometabolik ve Heredodejeneratif Hastalıklarda Klinik ve Radyolojik Yaklaşım

2025Open Access

GPD1 deficiency—a rare, overlooked cause of liver disease

1 cited

Journal of Human Genetics·2025· 1 citedOpen Access

Effect of empagliflozin treatment on laboratory and clinical findings of patients with glycogen storage disease type Ib: first study from Türkiye

2 cited

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

2 cited

Journal of clinical lipidology·2025· 2 cited

Outcome of hematopoietic stem cell transplantation in 19 patients with alpha-mannosidosis

Molecular Genetics and Metabolism·2025Open Access

page 1 of 6Next →

Frequent Co-authors

Engi̇n Köse(24), Ümmühan Öncül(14), Neslihan Doğulu(12), Merve Koç Yekedüz(9), Leyla Tümer(7), İlknur Sürücü Kara(7), Alev Hasanoğlu(6), İlyas Okur(5), Fatih Süheyl Ezgü(5), Emel Okulu(5), Tanıl Kendirli(5), Zarife Kuloğlu(4), Serdar Ceylaner(4), Saadet Arsan(4), Aydan Kansu(4), Martin Magner(3), Gürsel Biberoğlu(3), Burcu Öztürk Hişmi(3), Özlem Doğan(3), Serap Teber(3)