山梨大学医学部小児科学教室

症例報告：Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamoto N, Fukami M, Kato F, Saitsu H, Ogata T. Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation. Endocr J. 2021 ;11. doi: 10.1507/endocrj.EJ20-0706. PMID: 33583911