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Cognitive functioning in patients with classical galactosemia: a systematic review
BackgroundPatients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet,...
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Galactose epimerase deficiency: lessons from the GalNet registry
BackgroundGalactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the...
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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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The natural history of classic galactosemia: lessons from the GalNet registry
BackgroundClassic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate...
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Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia
BackgroundClassical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of...
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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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Bioinformatic analysis of the role of immune checkpoint genes and immune infiltration in the pathogenesis and development of premature ovarian insufficiency
PurposeWith advances in immunology, increasing evidence suggests that immunity is involved in premature ovarian insufficiency (POI) pathogenesis....
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A synopsis of global frontiers in fertility preservation
Since 2007, the Oncofertility Consortium Annual Conference has brought together a diverse network of individuals from a wide range of backgrounds and...
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Updates in Pediatric Cholestasis
Purpose of ReviewCholestasis is a common disorder in pediatric hepatology with a wide variety of causative etiologies. The presentation of jaundice...
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Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects
Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of...
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The Ontario Newborn Screening Program: A novel referral center model
Newborn screening (NBS) for inherited and congenital disorders is a form of secondary disease prevention and a public health responsibility. The...
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40 years neonatology
BackgroundA complete review of the development of neonatology in the last 40 years would probably require a compendium with several volumes, to bring...
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Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
BackgroundThe Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary...
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[18F]FDG PET in conditions associated with hyperkinetic movement disorders and ataxia: a systematic review
PurposeTo give a comprehensive literature overview of alterations in regional cerebral glucose metabolism, measured using [ 18 F]FDG PET, in...
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Role of Health Care Providers in Encouraging Formula Feeding in Mosul City
Unacceptable advertisements and deceptive promotion of formula feeding undermine breastfeeding and threaten infant and maternal health worldwide. The...
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Research activity and capability in the European reference network MetabERN
BackgroundMetabERN is one of the 24 European Reference Networks created according to the European Union directive 2011/24/EU on patient’s rights in...
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Circular RNA as new serum metabolic biomarkers in patients with premature ovarian insufficiency
ObjectiveQuantitative real-time PCR (qPCR) is used to detect the differential expression of circular RNAs in patients of premature ovarian...
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Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents
BackgroundInborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the...
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QALY league table of Iran: a practical method for better resource allocation
BackgroundThe limited health care resources cannot meet all the demands of the society. Thus, decision makers have to choose feasible interventions...
