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Author

Abdullah Sezer

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Review Sep 2026

Multisystemic Clues and Diagnostic Gaps: A Comparative Analysis of Pediatric Congenital Disorders of Glycosylation Patients.

BACKGROUND Congenital disorders of glycosylation (CDG) comprise a diverse group of rare inherited metabolic diseases caused by defects in glycan biosynthesis and processing. Since glycoconjugates play a critical role in development and cellular integrity, disruptions in glycosylation can result in a wide range of multi...

Sabire Gökalp, H. Akar, E. Aktaşoğlu et al. · 0 citations
Open access Sep 2026

A case of Krabbe disease presenting with hydrocephalus

It is emphasized that acute hydrocephalus can represent an uncommon but critical presenting feature of infantile Krabbe disease, particularly with consanguineous family history, and prompt metabolic evaluation including cerebrospinal fluid analysis and specific enzyme assays is essential for diagnosis.

Harun Yıldız, Abdullah Sezer, A. Olgaç · 0 citations
Open access Sep 2026

ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance

The findings provide robust evidence for familial transmission with reduced penetrance, emphasizing the necessity of family-based genetic counseling and parental testing, even when evaluating apparently asymptomatic individuals.

Ahmet Kablan, Abdullah Sezer, Atakan Deniz et al. · 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
Aug 2026

Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.

Findings support a dose-dependent SLC20A2 disease spectrum and expand the phenotype associated with biallelic loss of function from primary brain calcification toward severe early-onset neurodevelopmental disorder with prominent vascular and leptomeningeal calcification.

Mehmet Burak Mutlu, Abdullah Sezer, Elif Özdemir et al. · 0 citations

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