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Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease.
Cureus. 2024 May 30;16(5):e61380. doi: 10.7759/cureus.61380. eCollection 2024 May.
Cureus. 2024.
PMID: 38947680
Free PMC article.
Oculofaciocardiodental syndrome caused by a novel BCOR variant.
Yamashita T, Hotta J, Jogu Y, Sakai E, Ono C, Bamba H, Suzuki H, Yamada M, Takenouchi T, Kosaki K, Yorifuji T, Hamazaki T, Seto T.
Yamashita T, et al. Among authors: jogu y.
Hum Genome Var. 2023 Jun 12;10(1):18. doi: 10.1038/s41439-023-00244-x.
Hum Genome Var. 2023.
PMID: 37308473
Free PMC article.
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