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Article

Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.

Saudi medical journal - 1 Feb 2020

Salih Rihab M, Mohammed Esraa A, Alhashem Amal M, Mohamed Sarar, Al-Aqeel Aida I

Abstract excerpt

OBJECTIVES: To draw attention towards fructose-1,6-bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic acidosis and to implement preventive strategies. Methods: This observational, cross-sectional study was conducted on 7 Saudi patients with genetically confirmed FBPase deficiency from 2008 to 2018 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Results: Participants...

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Identifiers

PMID: 32020156
DOI: 10.15537/smj.2020.2.24885
PMCID: PMC7841638

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