Results 91 to 100 of about 1,659 (139)

Hereditary Fructose Intolerance

New England Journal of Medicine, 1963
HEREDITARY fructose intolerance is an uncommon metabolic disorder, characterized by symptoms of nausea, vomiting, malaise, substernal pain, excessive sweating, tremor, confusion, coma and convulsions, that follows the ingestion of foods containing fructose.1 With continued ingestion of fructose cirrhosis2 3 4 and mental retardation4 , 5 may develop. To
M, CORNBLATH, I M, ROSENTHAL, S H, REISNER, S H, WYBREGT, R K, CRANE   +4 more
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HEREDITARY FRUCTOSE INTOLERANCE

Acta Medica Scandinavica, 1972
Abstract. The clinical and metabolic aspects of hereditary fructose intolerance (HFI) are reviewed and some new observations on children with HFI are reported. The acute rise in plasma FFA level which was earlier shown to follow an acute exposure to fructose in these patients, was found to be associated with an increase in epinephrine excretion and a ...
J, Perheentupa, K O, Raivio, E A, Nikkilä   +2 more
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Hereditary Fructose Intolerance

QJM: An International Journal of Medicine, 1988
Hereditary fructose intolerance (HFI) is an inborn error of carbohydrate metabolism that is inherited as an autosomal recessive condition. The disease is caused by a catalytic deficiency of aldolase B and is characterized by severe abdominal symptoms and hypoglycaemia which follow the ingestion of fructose, sucrose or sorbitol.
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Adult hereditary fructose intolerance.

Archives of internal medicine, 1991
Hereditary fructose intolerance was diagnosed in a 69-year-old man on the basis of his medical history and the response to an intravenous fructose tolerance test. Three men of the same age as our patient were used as control subjects. Since the severity may vary and affected individuals self-impose fructose and sucrose restriction, they are essentially
L A, Burmeister, T, Valdivia, F Q, Nuttall   +2 more
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Subcellular pathology of hereditary fructose intolerance

The American Journal of Medicine, 1968
Abstract Liver and jejunal biopsy specimens from a patient with hereditary fructose intolerance were examined by light and electron microscopy before and two hours after the ingestion of 50 gm. of fructose. By light microscopy there was no change in the histologic structure of the liver or intestine.
M J, Phillips, J A, Little, T W, Ptak
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Congenital hereditary fructose intolerance and pregnancy

American Journal of Obstetrics and Gynecology, 1989
Congenital hereditary fructose intolerance is associated with the inability to tolerate fructose and carbohydrates, which are converted into fructose. We describe management of a pregnancy complicated by this disease in the mother and its implications for the neonate.
F, Marks, S, Ordorica, I, Hoskins, B K, Young   +3 more
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[Hereditary fructose intolerance].

Acta medica portuguesa, 1999
Hereditary fructose intolerance (HFI) is a rare autosomal recessive, metabolic disorder, that results from a deficiency of aldolase B (fructose-biphosphate aldolase) in the liver, kidney and intestine. Recent molecular studies have identified the mutation A149P in most European patients.
A I, Lopes, A G, Almeida, A E, Costa, A, Costa, M, Leite   +4 more
openaire   +1 more source

Genetic testing in prostate cancer management: Considerations informing primary care

Ca-A Cancer Journal for Clinicians, 2022
Veda N Giri, Jacob E Berchuck, Mary-Ellen Taplin   +2 more
exaly  

The physiology of alternative splicing

Nature Reviews Molecular Cell Biology, 2022
Alberto Kornblihtt
exaly