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Article

No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Apr 2003

Ozer Esra Arun, Aksu Nejat, Uclar Erkan, Erdogan Hakan, Bakiler Ali Rahmi, Tsuda Masahiko, Kitasawa Emiko, Coker Mahmut, Ozer Erdener

Abstract excerpt

Fanconi-Bickel syndrome (FBS), or glycogen storage disease type XI, is a rare, well-defined clinical entity. Recently, this disease was elucidated to link mutations in the SLC2A2 gene in many ethnic groups, indicating that FBS is a single gene disease. We report here an 8-month-old Turkish girl w...

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PMID: 12700970
DOI: 10.1007/s00467-003-1085-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12700970-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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