Showing 1 - 2 results of 2 for search 'Emma Glamuzina', query time: 0.01s Refine Results
  1. 1
    D,L‐3‐hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)

    D,L‐3‐hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS) by Aya Amer, Kathryn Murrell, Liza Edmonds, Isaac Bernhardt, Rhonda Akroyd, Bryony Ryder, Callum Wilson, Emma Glamuzina

    Published 2025-01-01
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  2. 2
    Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

    Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1 by Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert

    Published 2015-01-01
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