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Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 12, 2023
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG
Merve Yoldas Celik, Havva Yazici, Fehime Erdem, et al.
Journal of Bone and Mineral Metabolism
|
January 19, 2025
Insights into skeletal involvement in adult Gaucher disease: a single-center experience
Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, et al.
Nutrition, Metabolism, and Cardiovascular Diseases : NMCD
|
March 19, 2024
Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency
Merve Yoldas Celik, Ebru Canda, Havva Yazici, 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 compliance
Sema Kalkan Uçar, Yasemin Atik Altınok, Yelda Mansuroglu, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
June 14, 2019
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
Pelin Teke Kisa, Melis Kose, Ozlem Unal, et al.
JIMD Reports
|
May 12, 2021
Tetrahydrobiopterin deficiencies: Lesson from clinical experience
Ayse Ergul Bozaci, Esra Er, Havva Yazici, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
December 19, 2024
Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease
Merve Yoldas Celik, Havva Yazici, Fehime Erdem, 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 IX
Sema Kalkan Uçar, Alperen Elek, Havva Yazıcı, et al.
European Journal of Ophthalmology
|
May 8, 2025
Next generation sequencing in children with isolated congenital cataract
Gunay Amanova, Esra Er, Esra Isik, et al.
European Journal of Pediatrics
|
December 10, 2024
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes
Merve Yoldas Celik, Ebru Canda, Havva Yazici, et al.
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Search research articles
Search
Showing results (31-40 of 55) with videos related to
Sort By:
Page
of 6
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 12, 2023
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG
Merve Yoldas Celik, Havva Yazici, Fehime Erdem, et al.
Journal of Bone and Mineral Metabolism
|
January 19, 2025
Insights into skeletal involvement in adult Gaucher disease: a single-center experience
Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, et al.
Nutrition, Metabolism, and Cardiovascular Diseases : NMCD
|
March 19, 2024
Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency
Merve Yoldas Celik, Ebru Canda, Havva Yazici, 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 compliance
Sema Kalkan Uçar, Yasemin Atik Altınok, Yelda Mansuroglu, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
June 14, 2019
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
Pelin Teke Kisa, Melis Kose, Ozlem Unal, et al.
JIMD Reports
|
May 12, 2021
Tetrahydrobiopterin deficiencies: Lesson from clinical experience
Ayse Ergul Bozaci, Esra Er, Havva Yazici, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
December 19, 2024
Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease
Merve Yoldas Celik, Havva Yazici, Fehime Erdem, 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 IX
Sema Kalkan Uçar, Alperen Elek, Havva Yazıcı, et al.
European Journal of Ophthalmology
|
May 8, 2025
Next generation sequencing in children with isolated congenital cataract
Gunay Amanova, Esra Er, Esra Isik, et al.
European Journal of Pediatrics
|
December 10, 2024
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes
Merve Yoldas Celik, Ebru Canda, Havva Yazici, et al.
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of 6