The molecular basis of hereditary fructose intolerance in italian children [PDF]
, 1993 Summary: We investigated the molecular defects of the aldolase B gene in five unrelated patients affected by hereditary fructose intolerance. The techniques used were DNA amplification, direct sequencing and allele-specific oligonucleotide (ASO ...
Chiandetti, L. +15 more
core +1 more source
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. [PDF]
Ital J Pediatr, 2012 We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy.
Paolella G +6 more
europepmc +2 more sources
Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose? [PDF]
, 2018 peer reviewedBackground: High fructose intake causes hepatic insulin resistance and increases postprandial blood glucose, lactate, triglyceride, and uric acid concentrations.
Katarina Damjanovic +23 more
core +1 more source
Hereditary fructose intolerance – two case reports and literature review [PDF]
, 2021 Nasljedna nepodnošljivost fruktoze ili fruktozemija je autosomno recesivno nasljedni poremećaj koji nastaje zbog nedostatne aktiv- nosti enzima fruktoza-1-fosfat aldolaze (aldolaze B).
Valentina Rahelić +23 more
core +2 more sources
Is liver steatosis diagnostic of non-alcoholic fatty liver disease in patients with hereditary fructose intolerance? [PDF]
, 2019 Risk of patients with Hereditary Fructose intolerance to develop Non alchoolic fatty liver ...
Sciveres, Marco +2 more
core +1 more source
Mutation analysis in Turkish patients with hereditary fructose intolerance [PDF]
, 2001 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.
H.‐J. Boehme +17 more
core +1 more source
Pitfalls in the Diagnosis of Hereditary Fructose Intolerance [PDF]
Pediatrics, 2020 Establishing the diagnosis of hereditary fructose intolerance (HFI) remains difficult despite the availability of specific molecular genetic testing of the ALDOB gene. This is attributable, at least in part, to the lack of a specific and practical biomarker.
Alexander Y, Kim +5 more
openaire +2 more sources
Epidemiological aspects of hereditary fructose intolerance: A database study
Human Mutation, 2021 Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism of autosomal recessive inheritance caused by pathogenic variants in the ALDOB gene that lead to aldolase B deficiency in the liver, kidneys, and intestine.
F. C. Pinheiro +2 more
semanticscholar +1 more source
Nepal Mediciti Medical JournalHereditary Fructose Intolerance (HFI) is a rare autosomal recessive disorder caused by a deficiency of aldolase B, an enzyme essential for fructose metabolism. It often presents in infancy after the introduction of complementary feeding and is frequently
Sujeeta Bhandari +4 more
semanticscholar +1 more source
[Hereditary fructose intolerance].
La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1983 Two cases of hereditary fructose intolerance are reported. In the first one the symtomatology has started with an acute hepatic failure; the second one has come to our observation with a diagnosis of intrahepatic biliary duct atresia. It is underlined the difficulty of a differential diagnosis, in infants with serious hepatic failure, between ...
VISCOLI, CLAUDIO +3 more
openaire +4 more sources