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Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.

European journal of pediatrics - 9 Aug 2025

Akyüz Ayşe, Okur İlyas, Tümer Leyla, Eminoğlu Fatma Tuba, Köse Engin, Ergin Filiz Başak, İnci Aslı, Dalgıç Buket, Yüce Burcu, Çiftçi Bahattin, Oktar Suna Özhan, Erbaş Gonca, Biberoğlu Gürsel, Öktem Murat, Bakkaloğlu Sevcan A, Aktaş Emine, Ezgü Fatih Süheyl

Abstract excerpt

Glycogen storage disease type 1 (GSD1), which is categorized into GSD1a and GSD1b, is caused by disease-causing genetic variants in G6PC or SLC37A4 genes, respectively. The aim of this study was to present clinical characteristics, novel phenotypic and molecular features as well as long-term complications of the largest cohort of patients in Turkey and one of the largest cohorts in the world. The demographic,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40781175
DOI: 10.1007/s00431-025-06371-7

Genes

SLC37A4
HNF1A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.PMID 40781175Read ↗

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