Roland Posset

Heidelberg, BW 69120, Germany

Last Updated: 09/26/2026

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Found 29 publications

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.

Journal: Scientific reports
Published: December 09, 2025

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Journal: Pediatrics
Published: August 31, 2025

Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.

Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.

Journal: Journal of inherited metabolic disease
Published: June 04, 2025

Ultra-orphan diseases: A cross-sectional quantitative analysis of the natural history of isolated sulfite oxidase deficiency.

Ultra-orphan diseases: A cross-sectional quantitative analysis of the natural history of isolated sulfite oxidase deficiency.

Journal: PloS one
Published: October 11, 2024

Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders.

Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders.

Journal: Molecular genetics and metabolism
Published: April 04, 2024

Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.

Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.

Journal: Molecular genetics and metabolism
Published: October 25, 2023

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

Journal: Journal of inherited metabolic disease
Published: September 16, 2023

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 23, 2023

The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.

The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.

Journal: Journal of inherited metabolic disease
Published: July 20, 2023

ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.

ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.

Journal: Molecular genetics and metabolism
Published: July 18, 2023

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Journal: Journal of inherited metabolic disease
Published: July 19, 2022

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.

Journal: Annals of clinical and translational neurology
Published: June 04, 2022
Showing 1-12 of 29

Last Updated: 09/26/2026