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Author

Sabire Gokalp

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Open access Aug 2026

Biochemical Evaluation of Bone Health in Children with Phenylketonuria, Organic Acidemias, and Glycogen Storage Diseases Under Dietary Management

Background: Inherited metabolic disorders (IMDs) are a heterogeneous group of genetic diseases, some of which require lifelong disease-specific dietary management. Children with phenylketonuria (PKU), organic acidemias (OAs), and glycogen storage diseases (GSDs) are particularly susceptible to nutritional imbalances an...

Sabire Gokalp, H. Paşaoğlu · 0 citations
Aug 2026

A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.

This case broadens the mutational spectrum of YIF1B-related disease and highlights the distinctive clinical pattern of KABAMAS, with an 11-month-old Turkish girl with profound developmental delay, absent head control, poor feeding, laryngomalacia and cortical visual impairment.

Sabire Gokalp, A. Olgaç, Fehime Erdem Karapinar et al. · 0 citations

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