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Brief ReportBrief Communication
Open Access

Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis

An important cause of hypoglycemia in children

Rihab M. Salih, Esraa A. Mohammed, Amal M. Alhashem, Sarar Mohamed and Aida I. Al-aqeel
Saudi Medical Journal February 2020, 41 (2) 199-202; DOI: https://doi.org/10.15537/smj.2020.2.24885
Rihab M. Salih
From the Department of Pediatrics, Medical Genetics and Metabolic Division (Salih, Mohammed, Alhashem, Mohamed, Al-aqeel), Prince Sultan Military Medical City, from the Department of Anatomy and Cell Biology (Alhashem); from the Department of Pediatrics (Mohamed); from the Department of Anatomy and Embryology (Al-aqeel), College of Medicine, Alfaisal University, from the Department of Pediatrics (Mohammed), Prince Abdullah bin Khalid Celiac Disease Research Chair, King Saud University, Riyadh, Kingdom of Saudi Arabia, and from the Department of Biochemistry and Molecular Biology (Al-aqeel), College of Medicine, American University of Beirut, Beirut, Lebanon
MD, ABP
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Esraa A. Mohammed
From the Department of Pediatrics, Medical Genetics and Metabolic Division (Salih, Mohammed, Alhashem, Mohamed, Al-aqeel), Prince Sultan Military Medical City, from the Department of Anatomy and Cell Biology (Alhashem); from the Department of Pediatrics (Mohamed); from the Department of Anatomy and Embryology (Al-aqeel), College of Medicine, Alfaisal University, from the Department of Pediatrics (Mohammed), Prince Abdullah bin Khalid Celiac Disease Research Chair, King Saud University, Riyadh, Kingdom of Saudi Arabia, and from the Department of Biochemistry and Molecular Biology (Al-aqeel), College of Medicine, American University of Beirut, Beirut, Lebanon
MBBS
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Amal M. Alhashem
From the Department of Pediatrics, Medical Genetics and Metabolic Division (Salih, Mohammed, Alhashem, Mohamed, Al-aqeel), Prince Sultan Military Medical City, from the Department of Anatomy and Cell Biology (Alhashem); from the Department of Pediatrics (Mohamed); from the Department of Anatomy and Embryology (Al-aqeel), College of Medicine, Alfaisal University, from the Department of Pediatrics (Mohammed), Prince Abdullah bin Khalid Celiac Disease Research Chair, King Saud University, Riyadh, Kingdom of Saudi Arabia, and from the Department of Biochemistry and Molecular Biology (Al-aqeel), College of Medicine, American University of Beirut, Beirut, Lebanon
MD, FMG
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Sarar Mohamed
From the Department of Pediatrics, Medical Genetics and Metabolic Division (Salih, Mohammed, Alhashem, Mohamed, Al-aqeel), Prince Sultan Military Medical City, from the Department of Anatomy and Cell Biology (Alhashem); from the Department of Pediatrics (Mohamed); from the Department of Anatomy and Embryology (Al-aqeel), College of Medicine, Alfaisal University, from the Department of Pediatrics (Mohammed), Prince Abdullah bin Khalid Celiac Disease Research Chair, King Saud University, Riyadh, Kingdom of Saudi Arabia, and from the Department of Biochemistry and Molecular Biology (Al-aqeel), College of Medicine, American University of Beirut, Beirut, Lebanon
FRCPCH, MD
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Aida I. Al-aqeel
From the Department of Pediatrics, Medical Genetics and Metabolic Division (Salih, Mohammed, Alhashem, Mohamed, Al-aqeel), Prince Sultan Military Medical City, from the Department of Anatomy and Cell Biology (Alhashem); from the Department of Pediatrics (Mohamed); from the Department of Anatomy and Embryology (Al-aqeel), College of Medicine, Alfaisal University, from the Department of Pediatrics (Mohammed), Prince Abdullah bin Khalid Celiac Disease Research Chair, King Saud University, Riyadh, Kingdom of Saudi Arabia, and from the Department of Biochemistry and Molecular Biology (Al-aqeel), College of Medicine, American University of Beirut, Beirut, Lebanon
FRCP, FACMG
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  • For correspondence: [email protected]
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References

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Saudi Medical Journal: 41 (2)
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1 Feb 2020
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Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis
Rihab M. Salih, Esraa A. Mohammed, Amal M. Alhashem, Sarar Mohamed, Aida I. Al-aqeel
Saudi Medical Journal Feb 2020, 41 (2) 199-202; DOI: 10.15537/smj.2020.2.24885

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Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis
Rihab M. Salih, Esraa A. Mohammed, Amal M. Alhashem, Sarar Mohamed, Aida I. Al-aqeel
Saudi Medical Journal Feb 2020, 41 (2) 199-202; DOI: 10.15537/smj.2020.2.24885
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Keywords

  • Fructose-1,6-bisphosphatase
  • FBPase
  • FBP1 gene
  • fructose
  • hypoglycemia

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