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Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance
BackgroundHereditary fructose intolerance (HFI) is a rare metabolic disease caused by aldolase B deficiency. The aim of our study was to analyse...
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Vitamin C and folate status in hereditary fructose intolerance
BackgroundHereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment...
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Estimation of hereditary fructose intolerance prevalence in the Chinese population
BackgroundHereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder. The...
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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....
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Gene variants of the SLC2A5 gene encoding GLUT5, the major fructose transporter, do not contribute to clinical presentation of acquired fructose malabsorption
BackgroundWhile role of ALDOB- related gene variants for hereditary fructose intolerance is well established, contribution of gene variants for...
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Inherited Fanconi syndrome
BackgroundFanconi-Debré-de Toni syndrome (also known as Fanconi renotubular syndrome, or FRST) profoundly increased the understanding of the...
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Tissue-Specific Fructose Metabolism in Obesity and Diabetes
Purpose of ReviewThe objective of this review is to provide up-to-date and comprehensive discussion of tissue-specific fructose metabolism in the...
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Food intolerances—a diagnostic challenge
BackgroundFood-associated complaints in the gastrointestinal tract can be signs of an intolerance of different etiology, which is reported by almost...
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Symptoms of SARS-CoV-2 infection and vaccine status of sixty-seven adult patients affected by inherited metabolic diseases: a phone survey
BackgroundThe Covid pandemic seems to have had several detrimental effects on managing patients affected by inherited metabolic diseases (IMD),...
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Dietary Management of Metabolic Liver Disease
Purpose of ReviewMetabolic liver diseases encompass several different inherited conditions that affect metabolism and can lead to hepatic...
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Acute Liver Failure in Neonates and Early Infancy: an Approach to Diagnosis and Management
Purpose of ReviewAcute liver failure in neonates and early infancy is an uncommon condition with varied etiology and high mortality rates. We attempt...
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Getting the BS out of Irritable Bowel Syndrome with Diarrhea (IBS-D): Let’s Make a Diagnosis
Purpose of reviewIrritable bowel syndrome with diarrhea (IBS-D) is diagnosed when chronic symptoms of abdominal pain accompany loose stools, and...
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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...
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Beyond the kidney: extra-renal manifestations of monogenic nephrolithiasis and their significance
BackgroundThe objective of this study was to explore the frequency of occurrence of extra-renal manifestations associated with monogenic...
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Diagnostic therapeutic care pathway for pediatric food allergies and intolerances in Italy: a joint position paper by the Italian Society for Pediatric Gastroenterology Hepatology and Nutrition (SIGENP) and the Italian Society for Pediatric Allergy and Immunology (SIAIP)
Epidemiologic data suggest an increased prevalence of pediatric food allergies and intolerances (FAIs) during the last decades. This changing...
