Ebru CANDA
Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı
Araştırma alanları: Sağlık Bilimleri, Tıp, Dahili Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, Biyokimya, Tıbbi Genetik, Temel Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Temel Bilimler
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)
- DHCR24-Related Desmosterolosis in the First Reported Turkish Patient: Expanding the Genotypic and Phenotypic Spectrum (2026)
- Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study (2026)
- Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye (2026)
- Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases (2025)
- Evaluating biomarkers for diagnosis and treatment monitoring in Gaucher Disease (2025)
- Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response (2025)
- Cardiac involvement as a gateway to the diagnosis of inherited metabolic disorders: A 16-year pediatric experience from a tertiary metabolic center (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)
- A retrospective study on neuropsychiatric presentations of mucopolysaccharidoses (2025)
- Simultaneous Determination of Lyso-Gb1 and Lyso-Gb3 in Plasma Using Salt-Assisted Liquid–Liquid Extraction Combined with LC–MS/MS (2025)
- Next generation sequencing in children with isolated congenital cataract (2025)
- A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure (2025)
- Effect of large neutral amino acids treatment on blood phenylalanine, tyrosine, and tryptophan levels in adolescent and young adult PKU patients (2025)
- Cardiac involvement as a gateway to the diagnosis of inherited metabolic disorders: A 16-year pediatric experience from a tertiary metabolic center (2025)
- Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations (2025)
- Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease (2024)
- Determination of selected oxysterol levels, oxidative stress, and macrophage activation indicators in children and adolescents with familial hypercholesterolemia (2024)
- Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels (2024)
- Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals (2024)
- Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl (2023)
- COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience (2023)
- The relationship between ultrasonographically measured testicular volumes and cord blood inhibin B concentrations in healthy term male neonates (2023)
- N-Acetylglutamate Synthase Deficiency (2023)
- Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity (2023)
- Metabolic and Mitochondrial Myopathies (2023)
- Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb (2023)
- Karbonhidrat Metabolizma Bozuklukları (2022)
- Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients (2022)
- Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine (2022)
- Three-Country Snapshot of Ornithine Transcarbamylase Deficiency (2022)
- Nöropsikiyatrik semptomlarla başvuran mukopolisakkaridoz olguları (2022)
- Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb. (2022)
- HIBCH MUTATIONS AS A PART FROM DIFFERENTIAL DIAGNOSIS OF LEIGH-LIKE SYNDROME (2022)
- HETEROZİGOT FAMİLYAL HİPERKOLESTEROLEMİ EGE TIP DENEYİMİ (2022)
- Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl (2022)
- THE ROLE OF LYSO GB1 LEVELS IN FOLLOW-UP PATIENTS WITH GAUCHER DİSEASE (2022)
- INFLAMMATORY AND OXIDATIVE STRESS MARKERS IN SERUM OF PATIENTS WITH MUCOPOLYSACCHARIDOSIS (2022)
- Severe perinatal hypophosphatasia case with a novel mutation (2022)
- Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux (2022)
- Methylmalonyl-CoA Epimerase Deficiency Case: Mimicking Ketolysis Defect (2021)
- Tetrahydrobiopterin deficiencies: Lesson from clinical experience (2021)
- Eight CPT II deficient patients: single center experience from Turkey (2021)
- Tetrahydrobiopterin deficiencies: Lesson from clinical experience. (2021)
- A Mortal Complication in a Case with Mucopolysaccharidosis Type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage (2021)
- SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey (2020)
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies. (2020)
- Pediatric Liver Transplantation Outcomes for Metabolic and Non-metabolic Diseases in Turkey: A Single Center Experience (2019)
- Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey (2019)
- Two siblings with Gaucher type 3c: different clinical presentations (2019)
- Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis (2019)
- Tyrosinemia Type III: Outcome in Two Cases (2019)
- Coexistence of Gaucher Disease and severe congenital neutropenia (2019)
- Fabry hastalığı: Ege Tıp deneyimi (2018)
- IDS geninde rekombinasyon tip mutasyona sahip iki hunter sendromu olgusu (2018)
- Hematological Features Of 42 Patients With Gaucher Disease From The West Of Turkey (2018)
- An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathy (2018)
- Pompe hastalığı - Ege Tıp deneyimi (2018)
- Mukopolisakkaridozis tip 1 tanısı ile kök hücre nakli yapılan olguda ölümcül bir komplikasyon: Pulmoner hemoraji (2018)
- Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis (2018)
- Lizozomal depo hastalığı tanısını erişkin yaşta alan olgularımız: Ege Tıp deneyimi (2018)
- A case of fucosidosis treated with unrelated donor bone marrow transplantation (2018)
- Lysosomal storage disease in adult patients: Ege University experience (2018)
- Clinical presentation and follow-uppatients with mucopolysaccharidosis IVa: Ege Universty experience (2018)
- Clinical and biochemical characteristics of fourteen patients with Fabry disease in western Turkey (2018)
- İki nadir metabolik hastalık: CPT1a ve MPS IIIB birlikteliği (2018)
- Pregnancies In Our Patients With Gaucher Disease; What Happened (2018)
- Kolesterol ester depo hastalığının taranması, olası ön göstergelerinin araştırılması ve lizozomal asit lipazın referans aralığının belirlenmesi (2018)
- NADI·R GO¨RU¨LEN KONJENI·TAL ERI·TROPOETI·K PORFI·RI· OLGULARI: AYNI MUTASYON VE FARKLI KLI·NI·KLER (2018)
- A fatal complication in a case of mucopolysaccharidosis type I trated with haematopoietic stem cell transplantation: pulmonary haemorrhage. (2018)
- Acut metabolic decompensation of a maple syrup urine disease patient treated with hemodiafiltration (2018)
- PgmNr 2987: The utility of a next generation sequencing panel in severe pediatric onset inherited diseases. (2018)
- Patients with Gaucher type I: Switching from imiglucerase to miglustat therapy (2018)
- Single center experience of biotinidase deficiency: 259 patients and six novel mutations (2018)
- İki metabolik hastalık birlikteliği: Biotinidaz eksikliği ve Pompe hastalığı (2018)
- Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience (2018)
- Mukopolisakkaridoz Hastalarında Kardiyak ve Vaskuler Etkilenmenin Değerlendirilmesi. (2018)
- Clinical profile of two siblings with cerebrotendinous xanthomatosis: A novel mutationin CYP27A1 gene (2018)
- Nadir görülen konjenital eritropoetik porfiri olguları: Aynı mutasyon ve farklı klinikler (2018)
- Nadir Bir Gastrointestinal Kanama Nedeni Metakromatik Lökodistrofi Tanılı Olguda Masif Hemobilia (2018)
- Pediatric liver transplantation outcomes for metabolic and nonmetabolic diseases in Turkey: A single center experience (2018)
- Fukosidoz tanılı hastada kök hücre nakli deneyimi (2018)
- Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone (2018)
- Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis (2018)
- Clinical and molecular features of 29 patients with hereditary tyrosinemia 1 in western Turkey. (2018)
- Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey (2018)
- The utility of a next generation sequencing panel in severe pediatric onset inherited diseases (2018)
- An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis (2018)
- Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria (2018)
- Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey (2018)
- Higher levels of CD19(+) leukocytes in Gaucher disease patients as a potential marker for malignancy (2018)
- Patients with Gaucher type 1: Switching from imiglucerase to miglustat therapy (2018)
- Recurrent ketoacidosis: Is it a ketone metabolism disorder? (2018)
- Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience (2018)
- Glutaric aciduria type I diagnosis case with normal glutaryl carnitine and urine organic acid analysis. (2017)
- Neuronal ceroid lipofuscinosis: Twofamilies, two forms, two new mutations. (2017)
- Evoluation of our patients with Fanconi Bickel syndrome. (2017)
- Hipoksantin-guanin fosforibozil transferaz eksikliği olgularımız (2017)