Search results for "Alagille syndrome"

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Previously Undescribed Family Mutation in the JAG1 Gene as a Cause for Alagille Syndrome

2017

0301 basic medicineGeneticsJAG1Polymorphism Geneticbusiness.industryGastroenterologyInfant030105 genetics & hereditymedicine.diseaseAlagille Syndrome03 medical and health sciences030104 developmental biologyPolymorphism (computer science)MutationPediatrics Perinatology and Child HealthAlagille syndromeMutation (genetic algorithm)medicineHumansFemalebusinessGeneJagged-1 ProteinJournal of Pediatric Gastroenterology & Nutrition
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The Italian experience on paediatric liver transplantation: 1988-1999 report

2002

Abstract Background. Liver transplantation is the treatment of choice for end-stage liver disease in both adult and paediatric patients. The Italian experience in paediatric liver transplantation during the period 1988–1999 is reported herein. Patients and methods. This report concerns 228 liver transplantations performed in 207 patients (100 male, 107 female, mean age 5.1±4.4 years) in 11 Italian centres. The mean waiting time on the transplantation list was 6. 1±8.9 months and the main indications for the procedure were biliary atresia, inborn metabolic disorders, liver cirrhosis, liver neoplasms, Alagille syndrome, and fulminant hepatic failure. Results. The cumulative survival rate was …

medicine.medical_specialtyPediatricsCirrhosisLiver transplantationHepatologybusiness.industrymedicine.medical_treatmentGastroenterologyLiver transplantationmedicine.diseaseSurgeryTransplantationLiver diseaseFulminant hepatic failureSurvival analysiBiliary atresiaAlagille syndromePaediatric ageMedicinebusinessSurvival rate
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