Stefania Caviglia

Rome, Italy

Last Updated: 09/26/2026

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Found 10 publications

Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study.

Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study.

Journal: Hormone research in paediatrics

Published: November 07, 2023

Availability of psychological resources for parents receiving communication of positivity at newborn screening for metabolic diseases in Italy.

Availability of psychological resources for parents receiving communication of positivity at newborn screening for metabolic diseases in Italy.

Journal: European journal of pediatrics

Published: July 17, 2023

The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism.

The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism.

Journal: Journal of inherited metabolic disease

Published: March 09, 2023

Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.

Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.

Journal: Orphanet journal of rare diseases

Published: March 03, 2023

Neurologic outcome following liver transplantation for methylmalonic aciduria.

Neurologic outcome following liver transplantation for methylmalonic aciduria.

Journal: Journal of inherited metabolic disease

Published: November 28, 2022

Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.

Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.

Journal: Orphanet journal of rare diseases

Published: April 28, 2022

Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations.

Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations.

Journal: Orphanet journal of rare diseases

Published: April 09, 2021

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.

Journal: Orphanet journal of rare diseases

Published: June 23, 2015

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

Journal: Orphanet journal of rare diseases

Published: November 05, 2014

Cognitive findings and behavior in children and adolescents with phenylketonuria.

Cognitive findings and behavior in children and adolescents with phenylketonuria.

Journal: Journal of developmental and behavioral pediatrics : JDBP

Published: June 21, 2013

Showing 1-10 of 10

Last Updated: 09/26/2026