Sema KALKAN UÇAR
Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı
Araştırma alanları: Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, Pediatrik Endokrinoloji ve Metabolizma, Tıbbi Genetik, Biyokimya, İç Hastalıkları, Temel Bilimler, Diğer
Yayınlar
- Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia (2026)
- Severe Hypercholesterolemia in a Pediatric Cohort: Familial Homozygous and Autosomal Recessive Hypercholesterolemia (2026)
- Pregnancies in Women With Long‐Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey (2026)
- Shifting Towards Empagliflozin First‐Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real‐World Study (2026)
- Harmonizing Perspectives on MPS II Care in Türkiye: A Delphi Study Towards Treatment Management Consensus (2026)
- Alpha-Mannosidosis: Quantitative Oligosaccharide Biomarker Analysis in Dried Blood Spots for Diagnosis, Newborn Screening, and Treatment Monitoring (2026)
- Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly (2026)
- Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye (2026)
- Simultaneous Determination of Lyso-Gb1 and Lyso-Gb3 in Plasma Using Salt-Assisted Liquid–Liquid Extraction Combined with LC–MS/MS (2025)
- EVALUATION OF EXPERIENCED CLINICAL EVENTS IN POMPE DISEASE BASED ON REAL-LIFE DATA. (2025)
- Genotype–Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study (2025)
- Evaluating biomarkers for diagnosis and treatment monitoring in Gaucher Disease (2025)
- Cardiac involvement as a gateway to the diagnosis of inherited metabolic disorders: A 16-year pediatric experience from a tertiary metabolic center (2025)
- A retrospective study on neuropsychiatric presentations of mucopolysaccharidoses (2025)
- Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants (2025)
- Untargeted Plasma Metabolomics Extends the Biomarker Profile of Mitochondrial Neurogastrointestinal Encephalomyopathy (2025)
- SEREBROTENDINÖZ KSANTAMOTOZIS VE GÖRÜNTÜLEME BULGULARI (2025)
- Insights into skeletal involvement in adult Gaucher disease: a single-center experience (2025)
- Rapid lipid-lowering response in two cases of autosomal recessive hypercholesterolemia (2025)
- Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases (2025)
- Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha‐Mannosidosis (2025)
- Cardiac involvement as a gateway to the diagnosis of inherited metabolic disorders: A 16-year pediatric experience from a tertiary metabolic center (2025)
- Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes (2025)
- Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX (2025)
- Next generation sequencing in children with isolated congenital cataract (2025)
- Effect of large neutral amino acids treatment on blood phenylalanine, tyrosine, and tryptophan levels in adolescent and young adult PKU patients (2025)
- Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study (2025)
- A CRISPR /Cas9 knockout model for AADC deficiency reveals structural loop3 instability as a key driver of catalytic failure (2025)
- A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta (2025)
- Untargeted Plasma Metabolomics Extends the Biomarker Profile of Mitochondrial Neurogastrointestinal Encephalomyopathy (2025)
- Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations (2025)
- The genotypic and phenotypic landscape of PDHA1 -related pyruvate dehydrogenase complex deficiency (2025)
- Determination of selected oxysterol levels, oxidative stress, and macrophage activation indicators in children and adolescents with familial hypercholesterolemia (2024)
- Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye (2024)
- Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease (2024)
- Splenomegaly and progressive neurologic involvement: Think about Niemann–Pick type C disease (2024)
- Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels (2024)
- HİPOTONİK BEBEK (METABOLİK) (2024)
- Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop (2024)
- Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl (2024)
- Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency (2024)
- Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis (2024)
- Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance (2024)
- Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma (2024)
- Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye (2024)
- Pyruvate Dehydrogenase E3 Deficiency (2023)
- Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb (2023)
- Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome (2023)
- Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG (2023)
- Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome (2023)
- Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG (2023)
- COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience (2023)
- Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels (2023)
- Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl (2023)
- Two siblings with galactose mutarotase deficiency: Clinical differences (2022)
- Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux (2022)
- HIBCH MUTATIONS AS A PART FROM DIFFERENTIAL DIAGNOSIS OF LEIGH-LIKE SYNDROME (2022)
- HETEROZİGOT FAMİLYAL HİPERKOLESTEROLEMİ EGE TIP DENEYİMİ (2022)
- Glikojen Depo Hastalıkları (2022)
- Glukoz Transport Bozuklukları (2022)
- Karbonhidrat Metabolizma Bozuklukları (2022)
- Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy (2022)
- Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire (2022)
- Long-term follow-up of alkaptonuria patients: Single center experience (2022)
- Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency (2022)
- Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl (2022)
- Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine (2022)
- Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients (2022)
- Nöropsikiyatrik semptomlarla başvuran mukopolisakkaridoz olguları (2022)
- Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine (2022)
- Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb. (2022)
- A Metabolism Perspective on Pediatric Rhabdomyolysis (2021)
- Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux (2021)
- Tetrahydrobiopterin deficiencies: Lesson from clinical experience (2021)
- The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population (2020)
- The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population (2020)
- SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey (2020)
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): our clinical experience and a novel mutation. (2019)
- Clinical Presentation and Follow Up of Patients with Infantile Krabbe: Single Center Experience (2019)
- Tyrosinemia Type III: Outcome in Two Cases (2019)
- Ornithine Aminotransferase Deficiency: Report of Three Cases (2019)
- Hyperammonemia Due to Carnitine-Acylcarnitine Translocase Deficiency (2019)
- Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial (2019)
- Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Our Clinical Experience and a Novel Mutation (2019)
- Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis (2018)
- Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis (2018)
- From rodent heart to inborn errors of human metabolism (2018)
- Mukopolisakkaridoz tip IVa’da (Morquio sendromu) spinal tutulum: Tanı ve izlemde MRG’nin önemi (2017)
- Neuronal ceroid lipofuscinosis: Twofamilies, two forms, two new mutations. (2017)
- patients diagnosed with hepatocelluler carsinoma with tyrosinemia type I (2017)
- The case that received enzyme replacement treatment with congenital hypophospharasia (2017)
- Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases (2017)
- Evaluation of cardiac and vascyular involvement in patients with MPS. (2017)
- FOLLOW UP OF THE TWO CASES WİTH THE DİAGNOSİS OF NEONATAL CİTRİN DEFİCİENCY (2017)
- Common point of congenital dsorders of glycosylation type Ia and hereditary fructose intolerance. (2017)
- Mukopolisakkaridoz IIIB Hastalarında Naglu Geni Mutasyon Sprektrumu (2017)
- Patients with hypoxanthine-guanin phosphoribosyltransferase deficiency (2017)
- Preliminary Screening Results of Fabry Disease in Kidney Transplantation Patients: A Single-Center Study (2017)
- Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (B-ketothiolase, MAT) deficiency. (2017)
- GLUTARİC ACİDURİA TYPE I DİAGNOSİS CASE WİTH NORMAL GLUTARYL CARNİTİNE AND URİNE ORGANİC ACİD ANALYSİS (2017)