Rene Santer

Eppendorf, HH, Germany

Last Updated: 09/26/2026

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Found 109 publications

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Journal: Journal of inherited metabolic disease
Published: April 29, 2026

Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis.

Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis.

Journal: Journal of inherited metabolic disease
Published: February 04, 2026

Transaldolase deficiency - natural disease course towards adulthood.

Transaldolase deficiency - natural disease course towards adulthood.

Journal: Molecular genetics and metabolism
Published: January 08, 2026

Genetic screening of children for familial hypercholesterolaemia: the VRONI study.

Genetic screening of children for familial hypercholesterolaemia: the VRONI study.

Journal: European heart journal
Published: September 17, 2025

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Journal: Molecular genetics and metabolism
Published: May 31, 2025

Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.

Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.

Journal: npj metabolic health and disease
Published: November 04, 2024

Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.

Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.

Journal: The Journal of biological chemistry
Published: March 01, 2024

Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease.

Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease.

Journal: Molecular genetics and metabolism
Published: February 29, 2024

Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.

Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.

Journal: Journal of inherited metabolic disease
Published: February 29, 2024

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.

Journal: Annals of clinical and translational neurology
Published: December 14, 2023

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Journal: Brain communications
Published: November 29, 2023

Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function.

Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function.

Journal: Gut
Published: October 20, 2023
Showing 1-12 of 109

Last Updated: 09/26/2026