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Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease.
Nakamura K, Mukai S, Takezawa Y, Natori Y, Miyazaki A, Ide Y, Takebuchi M, Nanato K, Katoh M, Suzuki H, Sakyu A, Kojima T, Kise E, Hanafusa H, Kosho T, Kuwahara K, Sekijima Y. Nakamura K, et al. Among authors: kosho t. Mol Genet Metab Rep. 2023 Jun 7;36:100983. doi: 10.1016/j.ymgmr.2023.100983. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37323223 Free PMC article.
Case report: further delineation of AEBP1-related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature.
Yamaguchi T, Hayashi S, Nagai S, Uchiyama A, Motegi SI, Fujikawa T, Takiguchi Y, Kosho T. Yamaguchi T, et al. Among authors: kosho t. Front Genet. 2023 May 5;14:1102101. doi: 10.3389/fgene.2023.1102101. eCollection 2023. Front Genet. 2023. PMID: 37214418 Free PMC article.
204 results