Friederike Horster

Heidelberg, BW, Germany

Last Updated: 09/26/2026

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Found 30 publications

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Journal: Pediatrics

Published: August 31, 2025

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.

Journal: Journal of inherited metabolic disease

Published: July 17, 2025

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency.

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 10, 2025

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Journal: Journal of inherited metabolic disease

Published: June 24, 2025

Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?

Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?

Journal: International journal of neonatal screening

Published: July 31, 2024

Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.

Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.

Journal: Kidney international reports

Published: March 18, 2024

Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.

Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.

Journal: Molecular genetics and metabolism

Published: December 16, 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

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.

Journal: Nutrients

Published: June 02, 2023

Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).

Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).

Journal: Journal of clinical immunology

Published: December 20, 2022

Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional Study.

Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional Study.

Journal: Children (Basel, Switzerland)

Published: December 02, 2022

A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.

A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.

Journal: PloS one

Published: November 22, 2022

Showing 1-12 of 30

Last Updated: 09/26/2026