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Efficacy of Oral Manganese and D-galactose Therapy in a Patient Bearing a Novel TMEM165 Variant.

Zoe Durin,Alexandre Raynor,Francois Fenaille,Sophie Cholet,Sandrine Vuillaumier-Barrot,Jean-Meidi Alili, Joel Poupon,Nouzha Djebrani Oussedik,Caroline Tuchmann-Durand, Jennifer Attali,Romain Touze,Thierry Dupre,Elodie Lebredonchel, Marlyse Angah Akaffou,Dominique Legrand,Pascale de Lonlay,Arnaud Bruneel,Francois Foulquier

TRANSLATIONAL RESEARCH（2024）

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Key words
TMEM165,Manganese,galactose,Golgi,Glycosylation
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