Sabine A. Fuchs

Uppsalalaan 8, 3584, CT
Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 78 publications

Fair priority setting in gene-editing research: the accountability for reasonableness framework.

Fair priority setting in gene-editing research: the accountability for reasonableness framework.

Journal: EMBO molecular medicine

Published: November 25, 2025

Automated and scalable expansion of human liver organoids for translational applications.

Automated and scalable expansion of human liver organoids for translational applications.

Journal: Journal of translational medicine

Published: November 24, 2025

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Journal: International journal of neonatal screening

Published: November 24, 2025

Mitochondrial aminoacyl-tRNA synthetase (ARS)-defects: A review of phenotypes and therapeutic strategies in 899 patients.

Mitochondrial aminoacyl-tRNA synthetase (ARS)-defects: A review of phenotypes and therapeutic strategies in 899 patients.

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

Published: October 30, 2025

Navigating molecular therapies: The emerging role of mRNA in treating inherited metabolic diseases.

Navigating molecular therapies: The emerging role of mRNA in treating inherited metabolic diseases.

Journal: Molecular genetics and metabolism

Published: September 24, 2025

Organoids for Metabolic Disease Modeling.

Organoids for Metabolic Disease Modeling.

Journal: Journal of inherited metabolic disease

Published: September 01, 2025

Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies.

Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies.

Journal: Journal of inherited metabolic disease

Published: July 22, 2025

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Journal: Journal of inherited metabolic disease

Published: July 15, 2025

Functional characterization of BAP1 mutations in genome edited cholangiocarcinoma organoids: Role in cell death and drug responses.

Functional characterization of BAP1 mutations in genome edited cholangiocarcinoma organoids: Role in cell death and drug responses.

Journal: iScience

Published: July 07, 2025

The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.

The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.

Journal: Journal of inherited metabolic disease

Published: June 29, 2025

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.

Journal: Journal of inherited metabolic disease

Published: March 22, 2025

Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects.

Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects.

Journal: Journal of inherited metabolic disease

Published: November 22, 2024

Showing 1-12 of 78

Last Updated: 09/26/2026