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JIMD Reports|September 14, 2022
Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathySema Kalkan Uçar, Havva Yazıcı, Ebru Canda, et al.Blood Cells, Molecules & Diseases|November 27, 2018
Coexistence of Gaucher Disease and severe congenital neutropeniaMelis Demir Kose, Ebru Canda, Mehtap Kağnıcı, et al.Journal of Clinical Research in Pediatric Endocrinology|January 4, 2023
Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old GirlMerve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, et al.Journal of Inherited Metabolic Disease|April 16, 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 complianceSema Kalkan Uçar, Yasemin Atik Altınok, Yelda Mansuroglu, et al.Journal of Bone and Mineral Metabolism|January 19, 2025
Insights into skeletal involvement in adult Gaucher disease: a single-center experienceMerve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, et al.European Journal of Clinical Nutrition|April 10, 2025
Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IXSema Kalkan Uçar, Alperen Elek, Havva Yazıcı, et al.Journal of Clinical Research in Pediatric Endocrinology|August 28, 2025
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial HypercholesterolemiaHavva Yazıcı, Esra Er, Fehime Erdem, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|October 9, 2025
Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutationsFehime Erdem, Ebru Canda, Havva Yazıcı, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|November 5, 2023
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic formHavva Yazıcı, Gunes Ak, Merve Yoldas Çelik, et al.Journal of Clinical Lipidology|January 20, 2026
Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemiaHavva Yazıcı, Ebru Canda, Fehime Erdem, et al.Pageof 4