Skip to content
Log in
Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

H. Akar

View on Semantic Scholar

2 papers indexed here

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

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
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. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.