Havva YAZICI
Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı
Araştırma alanları: Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, Biyokimya, Temel Tıp Bilimleri, Pediatrik Endokrinoloji ve Metabolizma, Kimya, Moleküler Kütle Spektometrisi, 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)
- Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Immuno-Hematologic Trajectories (2026)
- Pregnancies in Women With Long‐Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey (2026)
- Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs (2026)
- SEREBROTENDINÖZ KSANTAMOTOZIS VE GÖRÜNTÜLEME BULGULARI (2025)
- Insights into skeletal involvement in adult Gaucher disease: a single-center experience (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)
- Distinct Brain Magnetic Resonance Imaging (MRI) Findings Across Mucopolysaccharidosis Types: Novel Insights (2025)
- The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder (2025)
- Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response (2025)
- Effect of large neutral amino acids treatment on blood phenylalanine, tyrosine, and tryptophan levels in adolescent and young adult PKU patients (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)
- Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single‐Center Experience (2025)
- Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience (2025)
- Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations (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)
- 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)
- 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)
- Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals (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)
- Gaucher Hastalığında tanı ve tedavi izleminde biyobelirteçlerin değerlendirilmesi (2024)
- HİPOTONİK BEBEK (METABOLİK) (2024)
- Rapid lipid-lowering response in two cases of autosomal recessive hypercholesterolemia (2024)
- Konjenital Kalp Hastalığı Tanılı ve Girişim Uygulanmış Olan Çocuklarda Hayat Kalitesi (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)
- Determination of selected oxysterol levels, oxidative stress, and macrophage activation indicators in children and adolescents with familial hypercholesterolemia (2024)
- DİSMORFİK BULGULAR (METABOLİK) (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)
- Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis (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)
- COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience (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)
- Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form (2023)
- Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb (2023)
- Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux (2022)
- Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine (2022)
- Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux (2022)
- Glikojen Depo Hastalıkları (2022)
- Glukoz Transport Bozuklukları (2022)
- Karbonhidrat Metabolizma Bozuklukları (2022)
- Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine (2022)
- Nöropsikiyatrik semptomlarla başvuran mukopolisakkaridoz olguları (2022)
- Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb. (2022)
- Kopya Numara Sayısı Değişikliklerinin Ekzom Sekanslama Yöntemiyle Saptanması (2022)
- Clinical spectrum of early onset “Mediterranean” (homozygous p. P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy (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)
- Çocuklarda Konvulsiyonun Nadir Bir Nedeni Akut İntermittan Porfiria (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)
- Two siblings with galactose mutarotase deficiency: Clinical differences (2021)
- A Metabolism Perspective on Pediatric Rhabdomyolysis (2021)
- Yağ Asidi Oksidasyon Bozuklukları (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)
- Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family (2020)
- Hyperammonemia Due to Carnitine-Acylcarnitine Translocase Deficiency (2019)
- Ornithine Aminotransferase Deficiency: Report of Three Cases (2019)
- Tyrosinemia Type III: Outcome in Two Cases (2019)
- Patients with Hypertriglyceridemia Due to Lipoprotein Lipase and APOC2 Deficiency (2019)
- Clinical Presentation and Follow Up of Patients with Infantile Krabbe: Single Center Experience (2019)
- Tyrosinemia Type III: Outcome in Two Cases (2019)
- Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Our Clinical Experience and a Novel Mutation (2019)
- Lysosomal storage disease in adult patients: Ege University experience (2018)
- İki nadir metabolik hastalık: CPT1a ve MPS IIIB birlikteliği (2018)
- Single center experience of biotinidase deficiency: 259 patients and six novel mutations (2018)
- Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience (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, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey (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)
- 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)
- Mukopolisakkaridoz tip IVa’da (Morquio sendromu) spinal tutulum: Tanı ve izlemde MRG’nin önemi (2017)