[1]. A Case of 17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism.
Internal medicine (Tokyo, Japan) (2024/) [Reviewed] Yes
[DOI] [2]. Effective growth hormone replacement with once-weekly somapacitan in Japanese children with growth hormone deficiency: Results from REAL4, a phase 3 clinical trial
CLINICAL ENDOCRINOLOGY [Volume]100 [Issue]4 [Page]389 -398 (2024/) [Reviewed] Yes
[DOI] [3]. Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.
Endocrine journal [Volume]71 [Issue]1 [Page]75 -81 (2024/) [Reviewed] Yes
[DOI] [4]. Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility.
HGG advances [Volume]5 [Issue]1 [Page]100244 (2024/) [Reviewed] Yes
[DOI] [5]. Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY [Volume]234 (2023/) [Reviewed] Yes
[DOI]