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Hereditary Fructose Intolerance 

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  1. Open Access 01-12-2024 | Hereditary Fructose Intolerance | OriginalPaper

    Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance

    Hereditary fructose intolerance (HFI) (OMIM #229,600) is a rare autosomal recessive metabolic disorder with a prevalence of 1–9 per 100,000 in Europe. It is caused by an enzymatic deficiency of aldolase B, an enzyme responsible for fructose

  2. Open Access 01-12-2022 | Hereditary Fructose Intolerance | OriginalPaper

    Estimation of hereditary fructose intolerance prevalence in the Chinese population

    Hereditary fructose intolerance (HFI) is a rare inherited autosomal recessive (AR) disease caused by pathogenic variants of the aldolase enzyme, B isoform gene ( ALDOB ), which leads to the fructose-1,6-bisphosphate aldolase B (aldolase B) …

  3. Open Access 01-12-2020 | Hereditary Fructose Intolerance | Letter

    Safety of vaccines administration in hereditary fructose intolerance

    Patients with hereditary fructose intolerance need to follow a life-long fructose dietary and drug restriction to prevent symptoms of intoxication. Concerns about vaccines administration have been manifested overtime, for the risk of a …

  4. 01-04-2010 | ReviewPaper

    The biochemical basis of hereditary fructose intolerance

    Hereditary fructose intolerance is a rare, but potentially lethal, inherited disorder of fructose metabolism, caused by mutation of the aldolase B gene. Treatment currently relies solely on dietary restriction of problematic sugars. Biochemical …

  5. 01-10-2001 | ReviewPaper

    Mutation analysis in Turkish patients with hereditary fructose intolerance

    Thirteen Turkish patients with hereditary fructose intolerance (HFI) were screened for the three common mutations, A149P, A174D and N334K, in the aldolase B gene that have been detected frequently in European population. We found that nine of the …

  6. 01-11-2002 | OriginalPaper

    Simple method for detection of mutations causing hereditary fructose intolerance

    Aldolase B is critical for sugar metabolism, and a catalytic deficiency due to mutations in its gene may result in hereditary fructose intolerance (HFI) syndrome, with hypoglycaemia and severe abdominal symptoms. This report describes two cases of …

  7. 01-04-2012 | Report

    Non responsive celiac disease due to coexisting hereditary fructose intolerance

    Celiac disease is associated with several genetic disorders, but its association with hereditary fructose intolerance is rare. Hereditary fructose intolerance is a rare autosomal recessive disease of fructose metabolism presenting as vomiting …

  8. 01-08-2007 | OriginalPaper

    Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance

    Hereditary fructose intolerance (HFI) is an inheritable disorder of fructose metabolism, inherited as an autosomal recessive disorder and caused by catalytic deficiency of aldolase B, which is critical for gluconeogenesis and fructose metabolism.

  9. 01-06-2007 | OriginalPaper

    Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls

    Hereditary fructose intolerance (HFI) is caused by a deficiency of aldolase B due to mutations of the ALDOB gene. The disease poses diagnostic problems because of unspecific clinical manifestations. We report three cases of HFI all of whom had a …

  10. 01-02-2010 | OriginalPaper

    Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population

    Mutations in the aldolase B gene (ALDOB) impairing enzyme activity toward fructose-1-phosphate cleavage cause hereditary fructose intolerance (HFI). Diagnosis of the disease is possible by identifying known mutant ALDOB alleles in suspected …

  11. 01-12-2010 | OriginalPaper

    Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance

    Hereditary fructose intolerance (HFI) is a potentially fatal inherited metabolic disease caused by a deficiency of aldolase B activity in the liver and kidney. Over 40 disease-causing mutations are known in the protein-coding region of ALDOB.

  12. Open Access 01-12-2012 | OriginalPaper

    Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance

    We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy. This case illustrates the problems of a correct diagnosis in sub-clinical patients …

  13. 20-03-2024 | Events

    Abstracts

  14. 11-03-2024 | Liver Transplantation | Online First

    Pediatric acute liver failure: Current perspective in etiology and management

    Pediatric acute liver failure (PALF) is a catastrophic clinical condition with very high morbidity and mortality without early detection and intervention. It is characterized by the acute onset of massive hepatocellular injury that releases …

  15. 02-08-2023 | Hypoglycemia | ContinuingEducation

    Renal Fanconi syndrome and hypoglycemia: lessons for clinical nephrologists

    A 6-year-old child of unrelated, healthy parents was examined for persistent proteinuria and glucosuria ongoing since the age of 2 years. The perinatal anamnesis (born at 40 weeks, weight 3600 gr, length 55 cm) and family history of the patient …

  16. 01-12-2023 | ReviewPaper

    Acute Liver Failure in Neonates and Early Infancy: an Approach to Diagnosis and Management

    Neonatal acute liver failure (NALF), although rare, is a unique disease and differs from acute liver failure in older children and adults in regard to etiology, management, and prognosis. Because of the rarity of occurrence and complexity …

  17. 30-12-2023 | Diarrhea | ReviewPaper

    Getting the BS out of Irritable Bowel Syndrome with Diarrhea (IBS-D): Let’s Make a Diagnosis

    The dictionary defines “syndrome” as “a group of signs and symptoms that occur together and characterize a particular abnormality or condition.” [Merriam-Webster.com, accessed 8/7/23] For irritable bowel syndrome (IBS), the symptoms include …

  18. 04-09-2023 | Insulins | Abstract

    59 th EASD Annual Meeting of the European Association for the Study of Diabetes

    Hamburg, Germany, 2 - 6 October 2023

    1 …

  19. Open Access 21-03-2024 | Basics of Nutrition in Children | Review

    Potential micronutrient deficiencies in the first 1000 days of life

    Optimal early nutrition has a lifelong positive impact on child development. But specific intrauterine and perinatal factors, pathological conditions, and dietary restrictions can contribute to micronutrient deficiencies. Which children are at risk and need supplementation?

  20. 04-02-2024 | Rickets | OriginalPaper

    Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia

    Chronic hypophosphatemia most often occurs due to ongoing renal loss and manifests as rickets/osteomalacia. The primary causes of renal phosphorus loss include excess parathyroid hormone (PTH), or fibroblast growth factor 23 (FGF23), or congenital …

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