Author

H. Akar

3 papers indexed here

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Aug 2026

Hypercobalaminemia in children: clinical characteristics and ınherited metabolic diagnoses in a tertiary-center cohort

The clinical and diagnostic characteristics of children with elevated serum vitamin B12 concentrations evaluated at a tertiary pediatric metabolic center, with particular attention to confirmed inherited metabolic disorders and documented prescribed vitamin B12 treatment are described.

Hacer Basan, Sabire Gökalp, Ekin Özsaydı Aktaşoğlu et al. · European Journal of Pediatri... · 0 citations

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. · Pediatric Neurology · 0 citations

Review Open access Aug 2026

Phenotype variability in six new patients with beta-mannosidosis.

Analysis of six new cases of beta-mannosidosis highlights marked phenotypic variability with no clear genotype-phenotype correlation and early screening may enable prompt diagnosis, improve management, and support future therapeutic development.

Madelyn Olivas, C.N. Romano, Angela Martin et al. · Molecular Genetics and Metab... · 0 citations