Search Results - "Degrassi, Irene"
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Fat-Soluble Vitamins Deficiency in Pediatric Cholestasis: A Scoping Review
Published in Nutrients (26-05-2023)“…This review aims to identify the current indications and gaps in the management of fat-soluble vitamins in pediatric patients with cholestasis. A comprehensive…”
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Gilbert or Crigler-Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity
Published in Italian journal of pediatrics (18-04-2022)“…Several mutations of bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) have been reported in patients with unconjugated hyperbilirubinemia…”
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Non-syndromic bile duct paucity and non-IgE cow’s milk allergy: a case report of challenging nutritional management and maltodextrin intolerance
Published in Italian journal of pediatrics (15-09-2022)“…Abstract Background Cholestasis in extremely premature infants (EPI) constitutes a nutritional challenge and maltodextrins have been reported as a possible…”
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Metabolic Dysfunction-Associated Fatty Liver Disease (MAFLD) and Thyroid Function in Childhood Obesity: A Vicious Circle?
Published in Children (Basel) (01-02-2024)“…Metabolic dysfunction-associated fatty liver disease (MAFLD) is a multisystem disorder characterized by the presence of fatty liver degeneration associated…”
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Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis
Published in Frontiers in pediatrics (16-07-2020)“…Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in…”
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Laparoscopic Cholecystectomy in Children: The Experience of Two Centers Focusing on Indications and Timing in the Era of “New Technologies”
Published in Children (Basel) (01-10-2023)“…Background: In children, laparoscopic cholecystectomy (LC) is now considered the gold standard for gallbladder (GB) removal. In the past, hemolytic disorders…”
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Liver histology in children with glycogen storage disorders type VI and IX
Published in Digestive and liver disease (01-01-2021)“…Glycogen storage diseases (GSD) type VI and IX are caused by liver phosphorylase system deficiencies and the two types are clinically indistinguishable. As the…”
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Pediatric autoimmune liver disease and extra-hepatic immune-mediated comorbidities
Published in Digestive and liver disease (01-02-2019)“…Autoimmune liver disease (AILD) includes autoimmune hepatitis (AIH) and autoimmune sclerosing cholangitis (ASC). AILD is often associated with other…”
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Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group
Published in Digestive and liver disease (01-01-2022)“…Neonatal and infantile cholestasis (NIC) can represent the onset of a surgically correctable disease and of a genetic or metabolic disorder worthy of medical…”
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Diagnosis of fatty liver in children should occur in parallel to investigation for other causes of liver disease
Published in The lancet. Gastroenterology & hepatology (01-07-2023)Get more information
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Late-Onset Pyloric Stenosis and Intussusception With Final Diagnosis of Food Proteins' Hypersensitivity in Schaaf-Yang Syndrome: A Case Report
Published in JPGN reports (01-05-2022)“…Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder whose clinical spectrum includes neurodevelopment delay, dysmorphic features, and…”
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Neurological involvement in Crigler-Najjar type I syndrome: Role of liver transplantation
Published in Digestive and liver disease (30-09-2014)Get full text
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Epilepsy surgery in a liver-transplanted girl with temporal lobe epilepsy and hippocampal sclerosis following PRES with status epilepticus
Published in European journal of paediatric neurology (01-07-2016)“…Abstract Introduction Posterior reversible encephalopathy syndrome (PRES) with status epilepticus may occur after liver transplant. This may rarely lead to…”
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