Havva Yazıcı
Ege, 35100, Turkey
Last Updated: 09/26/2026
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Found 28 publications
Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Immuno-Hematologic Trajectories.
Journal: Journal of clinical medicine
Published: February 10, 2026
Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye.
Journal: Metabolic brain disease
Published: January 07, 2026
Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data.
Journal: Neuropediatrics
Published: December 26, 2025
Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study.
Journal: Journal of inherited metabolic disease
Published: December 22, 2025
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.
Journal: Journal of inherited metabolic disease
Published: October 24, 2025
Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.
Journal: Diagnostics (Basel, Switzerland)
Published: September 30, 2025
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia
Journal: Journal of clinical research in pediatric endocrinology
Published: August 28, 2025
DHCR24-related desmosterolosis in the first reported Turkish patient: Expanding the genotypic and phenotypic spectrum.
Journal: Journal of clinical lipidology
Published: July 21, 2025
Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: June 24, 2025
Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.
Journal: Annals of human genetics
Published: May 27, 2025
Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response.
Journal: Journal of inherited metabolic disease
Published: April 04, 2025
The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.
Journal: European journal of pediatrics
Published: March 30, 2025
Last Updated: 09/26/2026