Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants

CONCLUSIONS: The manifestation of PAI in NNT-mutated patients is associated with a complete lack of NNT activity. Evaluation of NNT activity can be useful to characterize disease-causing NNT variants.PMID:38261461 | DOI:10.1093/ejendo/lvae011
Source: European Journal of Endocrinology - Category: Endocrinology Authors: Source Type: research