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The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies.
Mol Genet Metab. 2023 Nov;140(3):107693. doi: 10.1016/j.ymgme.2023.107693. Epub 2023 Aug 30.
Mol Genet Metab. 2023.
PMID: 37716025
Review.
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.
Bulthuis EP, Adjobo-Hermans MJW, de Potter B, Hoogstraten S, Wezendonk LHT, Tutakhel OAZ, Wintjes LT, van den Heuvel B, Willems PHGM, Kamsteeg EJ, Gozalbo MER, Sallevelt SCEH, Koudijs SM, Nicolai J, de Bie CI, Hoogendijk JE, Koopman WJH, Rodenburg RJ.
Bulthuis EP, et al. Among authors: gozalbo mer.
Biochim Biophys Acta Mol Basis Dis. 2023 Dec;1869(8):166808. doi: 10.1016/j.bbadis.2023.166808. Epub 2023 Jul 16.
Biochim Biophys Acta Mol Basis Dis. 2023.
PMID: 37454773
Free article.
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