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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.
Fanis P, Neocleous V, Kosta K, Karipiadou A, Hartmann MF, Wudy SA, Karantaglis N, Papadimitriou DT, Skordis N, Tsikopoulos G, Phylactou LA, Roilides E, Papagianni M. Fanis P, et al. Among authors: karipiadou a. J Pediatr Endocrinol Metab. 2020 Nov 11;34(1):131-136. doi: 10.1515/jpem-2020-0245. Print 2021 Jan 27. J Pediatr Endocrinol Metab. 2020. PMID: 33180036