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Istanbul University Faculty of Medicine... Publications | LitMetric

1 results match your criteria: "Istanbul University Faculty of Medicine Department of Pediatric Genetics MD[Affiliation]"

Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single-Center Experience.

J Clin Res Pediatr Endocrinol

August 2024

Istanbul University Institute of Child Health, Department of Pediatric Basic Sciences Division of Medical Genetics, Istanbul University Faculty of Medicine Department of Pediatric Genetics MD, PhD İSTANBUL.

Objective: Endocrine abnormalities may represent the only clinical manifestation of primary mitochondrial disorders. This study aimed to evaluate the endocrinological characteristics of mitochondrial disease in our cohort.

Methods: A total of twenty-six pediatric patients diagnosed with mitochondrial disease were categorized on the basis of their specific genetic abnormalities.

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