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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1
Celine Saad1, Sabine Jung-Klawitter2, Bianca Dimitrov1
1Medical Faculty of Heidelberg, Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, 69120, Heidelberg, Germany.
Scientific Reports
|March 31, 2026
Summary
No abstract available in PubMed .
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