Dorothea Moslinger

Vienna, Austria

Last Updated: 09/26/2026

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Found 22 publications

A suspicion index tool to aid the diagnosis and treatment of ASMD.

A suspicion index tool to aid the diagnosis and treatment of ASMD.

Journal: Orphanet journal of rare diseases

Published: July 22, 2025

Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers.

Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers.

Journal: Orphanet journal of rare diseases

Published: May 01, 2024

Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria.

Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria.

Journal: Molecular genetics and metabolism reports

Published: March 23, 2024

The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease.

The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease.

Journal: Journal of inherited metabolic disease

Published: February 21, 2024

Brain function in classic galactosemia, a galactosemia network (GalNet) members review.

Brain function in classic galactosemia, a galactosemia network (GalNet) members review.

Journal: Frontiers in genetics

Published: December 14, 2023

Galactose epimerase deficiency: lessons from the GalNet registry.

Galactose epimerase deficiency: lessons from the GalNet registry.

Journal: Orphanet journal of rare diseases

Published: May 24, 2022

100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.

100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.

Journal: Journal of inherited metabolic disease

Published: August 07, 2021

Risk factors for impaired health-related quality of life in a cohort of pediatric patients with inborn metabolic diseases.

Risk factors for impaired health-related quality of life in a cohort of pediatric patients with inborn metabolic diseases.

Journal: European journal of pediatrics

Published: July 15, 2021

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.

Journal: Orphanet journal of rare diseases

Published: July 02, 2021

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.

Journal: Nutrients

Published: November 15, 2020

Galactokinase deficiency: lessons from the GalNet registry.

Galactokinase deficiency: lessons from the GalNet registry.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 01, 2020

The natural history of classic galactosemia: lessons from the GalNet registry.

The natural history of classic galactosemia: lessons from the GalNet registry.

Journal: Orphanet journal of rare diseases

Published: January 15, 2019

Showing 1-12 of 22

Last Updated: 09/26/2026