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  1. Article

    Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy

     The childhood cerebral form of X-linked adrenoleukodystrophy (X-ALD) is a severe congenital metabolic disease without a definite effective therapy except for hematopoietic stem cell transplantation in the app...

    T. Matsumoto, A. Tsuru, N. Amamoto, T. Shimizu, T. Kondoh… in Journal of Human Genetics (2003)

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    In vitro activation of the pyruvate dehydrogenase complex in human muscle by a broad specificity protein phosphatase

    K. Toshima, Y. Kuroda, E. Takeda, T. Watanabe… in Journal of Inherited Metabolic Disease (1984)