Fehime H. Erdem
Ege, 35040, Turkey
Last Updated: 09/26/2026
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Found 21 publications
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
Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.
Journal: Journal of clinical lipidology
Published: March 25, 2025
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.
Journal: European journal of pediatrics
Published: October 01, 2024
Insights into skeletal involvement in adult Gaucher disease: a single-center experience.
Journal: Journal of bone and mineral metabolism
Published: September 22, 2024
Rapid lipid-lowering response in two cases of autosomal recessive hypercholesterolemia.
Journal: Journal of clinical lipidology
Published: May 30, 2024
Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.
Journal: European journal of clinical nutrition
Published: May 12, 2024
Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency.
Journal: Nutrition, metabolism, and cardiovascular diseases : NMCD
Published: November 12, 2023
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.
Journal: Journal of inherited metabolic disease
Published: August 21, 2023
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: June 23, 2023
Last Updated: 09/26/2026