|2.||Abdominal Pain (Pain, Abdominal)
|3.||Congenital Disorders of Glycosylation
|4.||Parasitic Diseases (Parasitic Disease)
|5.||Renal Insufficiency (Renal Failure)
|1.||Tolan, Dean R: 5 articles (03/2015 - 12/2002)|
|2.||Salvatore, Francesco: 3 articles (12/2010 - 11/2002)|
|3.||Vitagliano, Luigi: 3 articles (12/2010 - 11/2002)|
|4.||Zagari, Adriana: 3 articles (12/2010 - 11/2002)|
|5.||Esposito, Gabriella: 3 articles (12/2010 - 11/2002)|
|6.||Mavridou, Irene: 2 articles (10/2012 - 03/2009)|
|7.||Moraitou, Marina: 2 articles (10/2012 - 03/2009)|
|8.||Pollak, Agnieszka: 2 articles (10/2012 - 04/2006)|
|9.||Dimitriou, Evangelia: 2 articles (10/2012 - 03/2009)|
|10.||Michelakakis, Helen: 2 articles (10/2012 - 03/2009)|
01/01/1999 - "Offending carbohydrates are eliminated from the diet of patients with galactosemia and hereditary fructose intolerance. "
05/01/1998 - "Hereditary fructose intolerance (HFI, OMIM 22960), caused by catalytic deficiency of aldolase B (fructose-1,6-bisphosphate aldolase, EC 220.127.116.11), is a recessively inherited condition in which affected homozygotes develop hypoglycaemic and severe abdominal symptoms after taking foods containing fructose and cognate sugars. "
11/20/1994 - "Hereditary fructose intolerance is a human autosomal recessive disease caused by a deficiency of aldolase B that results in an inability to metabolize fructose and related sugars. "
06/17/1988 - "Hereditary fructose intolerance (HFI) is a human autosomal recessive disease caused by a deficiency of aldolase B that results in an inability to metabolize fructose and related sugars. "
06/24/1983 - "This case recalls the fact that fructose, sorbitol or invert sugars should not be added to infusion solutions as they may be toxic for healthy persons and imply a lethal risk for patients with undiagnosed hereditary fructose intolerance, even well beyond the baby and infant period."
|2.||Fructose-Bisphosphate Aldolase (Aldolase)IBA
01/26/1995 - "Thus recombinant aldolase B is a valid model for the native enzyme and can be used to study mutations that cause hereditary fructose intolerance or others designed in the active site. "
10/01/1982 - "Molecular studies of liver aldolase B in hereditary fructose intolerance using blotting and immunological techniques."
03/01/2015 - "Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans."
12/01/2010 - "Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance."
04/01/2010 - "This review gives a general overview of the features of hereditary fructose intolerance, then concentrates on the biochemistry of the AP variant (Ala149Pro variant of aldolase B) and molecular pathological consequences of mutation of the aldolase B gene."
09/01/2012 - "On the other hand, in a double-blind randomized study, a dose of 25 g fructose was suggested as the most appropriate for testing individuals with suspected fructose malabsorption, whereas symptom reliability to diagnose fructose intolerance was inaccurate. "
06/01/1987 - "A study of treatment practices of pediatric centers managing hereditary fructose intolerance and a review of recent literature on this subject were undertaken in an attempt to establish the degree of dietary liberalization allowable with age and the acceptability of foods containing trace amounts of fructose. "
09/01/2015 - "Our findings are thus relevant for clinical practice, highlighting that fructose breath test is a helpful, noninvasive method by: demonstrating fructose intolerance in patients with SSc; and identifying the group of SSc patients with fructose intolerance who may benefit from low-fructose diet. "
07/01/2015 - "The effect of a tailored fructose-restricted diet on gastrointestinal complaints was assessed in patients with fructose intolerance. "
01/01/2015 - "Hereditary fructose intolerance (HFI) is a difficult-to-confirm diagnosis, requiring either invasive liver biopsy-enzyme assay or potentially hazardous fructose challenge test or expensive molecular genetic analysis. "
|4.||Glucose (Dextrose)FDA LinkGeneric
01/01/1977 - "Studies of glucose turnover and renal function in an unusual case of hereditary fructose intolerance."
09/01/1981 - "The time course of D-glucose uptake, studied in two cell lines from patients with hereditary fructose intolerance, was significantly higher than for the control lines."
01/01/1987 - "The utilization of fructose and glucose by fibroblast cultures obtained from patients with hereditary fructose intolerance (HFI) was studied in comparison with fibroblast controls. "
01/01/1987 - "Comparative use of glucose and fructose in cultured fibroblasts from patients with hereditary fructose intolerance."
06/01/1987 - "The following types of carbohydrate intolerance are discussed as a risk in infusion therapy: Hereditary fructose intolerance, fructose-1,6-biphosphatase deficiency, impairment of glucose utilization during the post-aggression syndrome and/or in latent or overt diabetes mellitus. "
|5.||Uric Acid (Urate)IBA
11/01/1990 - "31P magnetic resonance spectroscopy studies of children with hereditary fructose intolerance revealed a readily detectable rise in phosphomonoesters with a marked fall in inorganic phosphate in their liver in vivo and a rise in serum urate in response to very low doses of oral fructose. "
10/01/2000 - "Similar to what is seen in patients with hereditary fructose intolerance, this may increase purine nucleotide degradation and thereby increase uric acid production. "
10/01/1975 - "In two patients with hereditary fructose intolerance (HFI) the peak blood uric acid levels were 12.1 and 7.6 mg/100 ml, respectively, after fructose. "
08/01/1987 - "A marked hypoglycemia and lactacidosis, an increase in uric acid, an acute liver failure with breakdown of excretory and synthetic function and disorder of hemostasis were typical of fructose/sorbitol infusion in hereditary fructose intolerance. "
01/01/1972 - "Studies on essential fructosuria and on hereditary fructose intolerance."
01/01/1964 - "[ESSENTIAL FRUCTOSURIA AND FRUCTOSE INTOLERANCE]."
06/01/1968 - "IV. Enzyme deficiencies: essential fructosuria, fructose intolerance, and glycogen-storage disease."
05/11/1965 - "[Metabolism of fructose, essential fructosuria and hereditary fructose intolerance]."
01/01/2003 - "A 13-year-old boy is reported with chronic unspecific abdominal pain and growth retardation and so far misdiagnosed hereditary fructose intolerance (HFI), who developed life-threatening adverse effects during the fructose breath hydrogen test. "
04/01/2014 - "The purpose of the present study was to ascertain whether pediatric patients with chronic abdominal pain had concurrent fructose intolerance as determined by a standardized dose breath hydrogen test (BHT), and whether symptoms would improve with a low-fructose diet. "
01/01/1974 - "Studies on liver aldolases in hereditary fructose intolerance."
09/15/2000 - "Our results show that the Arg(303)-->Gln substitution is a novel mutation causing hereditary fructose intolerance and provide a functional demonstration that Arg(303), a conserved residue in all vertebrate aldolases, has a dominant role in substrate binding during enzyme catalysis."
|10.||Genetic Markers (Genetic Marker)IBA
|1.||Diet Therapy (Therapy, Diet)
|2.||Nutrition Therapy (Medical Nutrition Therapy)
|3.||Protein-Restricted Diet (Diet, Protein Restricted)
|4.||Minor Surgical Procedures (Minor Surgery)