Christian Thiel

7PUBLICATIONS
46CO-AUTHORS
Medical devicesMedical molecular engineering of nucleic acids and proteinsGenetics not elsewhere classifiedDevelopmental genetics (incl. sex determination)Gene mapping
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Publications (7)

|Oct 06, 2025
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG.

Nastassja Himmelreich, Sven F Garbade, Jürgen G Okun

|Dec 16, 2024
Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.

Johannes Kopp, Denise Jahn, Guido Vogt

|Nov 24, 2023
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.

Melanie T Achleitner, Judith J M Jans, Laura Ebner

|Jun 09, 2021
A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.

Sevinç Gücüm, Roman Sakson, Marcus Hoffmann

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