Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 1, p. 131, doi. 10.1515/jpem-2020-0245

By:

• Fanis, Pavlos;
• Neocleous, Vassos;
• Kosta, Konstantina;
• Karipiadou, Aristea;
• Hartmann, Michaela F.;
• Wudy, Stefan A.;
• Karantaglis, Nikolaos;
• Papadimitriou, Dimitrios T.;
• Skordis, Nicos;
• Tsikopoulos, Georgios;
• Phylactou, Leonidas A.;
• Roilides, Emmanouil;
• Papagianni, Maria

Publication type:

Article