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