Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA : A case report
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H. Kurahashi | T. Yoshikawa | M. Tsutsumi | H. Inagaki | Yuta Sudo | Katsuyuki Yokoi | T. Mariya | Y. Nakajima | Rie Kawamura | T. Ito | Tasuku Mariya