René Santer

6PUBLICATIONS
21CO-AUTHORS
Inorganic materials (incl. nanomaterials)Agricultural molecular engineering of nucleic acids and proteinsFood properties (incl. characteristics and health benefits)AutoimmunityDevelopmental genetics (incl. sex determination)
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Publications (6)

|May 23, 2026
Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis.

|May 27, 2024
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.

Ruben J Overduin, Sarah C Grünert, Martine T P Besouw

|Dec 20, 2023
Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function.

Dalanda Wanes, Tammy Stellbrinck, Lara M Marten

|Jun 28, 2023
CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients.

Luise Sophie Ammer, Karolin Täuber, Anna Perez

|Mar 19, 2022
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.

Miriam S Reuter, Michael Zech, Maja Hempel

|Apr 23, 2016
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.

René Santer, Marcel du Moulin, Tatevik Shahinyan

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Frequent Collaborators

2 joint publications

Simona Murko

1 joint publications

Miriam S Reuter

1 joint publications

Laura Pölsler

1 joint publications

Brett Trost