Fructose-1,6-Diphosphatase Deficiency

Known as: Fructose 1,6 Diphosphatase Deficiency, Deficiency, Fructosediphosphatase, Deficiencies, Fructosediphosphatase 
An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1972-2018
02419722018

Papers overview

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2013
2013
A 14-month-old female infant presented with recurrent episodes of acute gastroenteritis accompanied by severe metabolic acidosis… (More)
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2003
2003
A 20-year-old woman presented with severe life-threatening metabolic acidosis and hypoglycemia. In addition, her blood tests… (More)
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1993
1993
The increase of fructose-1,6-diphosphatase activity during culture with calcitriol, which was reported in monocytes, was found… (More)
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1993
1993
Two sisters with fructose-1,6-diphosphatase deficiency are reported. They presented with ketonuria, elevated plasma transaminase… (More)
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1992
1992
Hypoglycaemia induced by fructose administration is one of the diagnostic clues to fructose-1,6-diphosphatase (FDPase) deficiency… (More)
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1991
1991
The clinical and biochemical data on nine patients belonging to six families with fructose-1,6-diphosphatase deficiency are… (More)
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1990
1990
Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are reported. All four patients… (More)
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1990
1990
Since the first description by Baker and Winegrad (1970), more than 40 patients have been described with fructose-l,6… (More)
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Review
1989
Review
1989
In describing one case of congenital fructose 1,6-diphosphatase deficiency the Authors review the several clinical conditions… (More)
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1986
1986
A patient aged 23 months with fructose-1,6-diphosphatase deficiency is reported. This infant demonstrated an increased urine… (More)
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