A rare case of fructose-1,6-bisphosphatase deficiency: a delayed diagnosis story

Ergoren M. C., Tuncel G., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.

TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, vol.45, no.5, pp.613-616, 2020 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 45 Issue: 5
  • Publication Date: 2020
  • Doi Number: 10.1515/tjb-2019-0473
  • Journal Name: TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.613-616
  • Keywords: FBPase deficiency, fructose-1,6-biphospatase, rare disease
  • Bursa Uludag University Affiliated: Yes

Abstract

Objectives: Fructose-1,6-bisphosphatase deficiency (FBPase deficiency, OMIM 229700) is an early-onset rare genetic disorder caused by mutations in the FBP1 gene.