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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
Haugarvoll Kristoffer, Johansson Stefan, Tzoulis Charalampos, Haukanes, Bredrup Cecilie, Neckelmann Gesche, Boman Helge, Knappskog, Bindoff
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In vitroand in vivoplasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor
Smith Tara, Ehrmantraut Greg, Jin Wei, Cui Wei, Braverman, Goodenowe, Khan, Wood
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In vitroand in vivoplasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor
Smith Tara, Ehrmantraut Greg, Jin Wei, Cui Wei, Braverman, Goodenowe, Khan, Wood
7 pages
English
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Targeted metabolomic analyses of cellular models of pelizaeus-merzbacher disease reveal plasmalogen and myo-inositol solute carrier dysfunction
Smith Tara, Pelzer Lindsay, Goodenowe, Wood
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