Found: 3

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  • Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03219-5
    By:
    • de Castro, María José;
    • Jones, Simon A;
    • de las Heras, Javier;
    • Sánchez-Pintos, Paula;
    • Couce, María L;
    • Colón, Cristóbal;
    • Crujeiras, Pablo;
    • Unceta, María;
    • Church, Heather;
    • Brammeier, Kathryn;
    • Yee, Wu Hoi;
    • Cooper, James;
    • López de Frutos, Laura;
    • Serrano-Gonzalo, Irene;
    • Camba, María José;
    • White, Fiona J.;
    • Holmes, Victoria;
    • Ghosh, Arunabha
    Publication type:
    Article

  • The natural history of glycogen storage disease type Ib in England: A multisite survey.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 52, doi. 10.1002/jmd2.12200
    By:
    • Halligan, Rebecca;
    • White, Fiona J.;
    • Schwahn, Bernd;
    • Stepien, Karolina M.;
    • Kamarus Jaman, Nazreen;
    • McSweeney, Mel;
    • Kitchen, Steve;
    • Gribben, Joanna;
    • Dawson, Charlotte;
    • Lewis, Katherine;
    • Cregeen, David;
    • Mundy, Helen;
    • Santra, Saikat
    Publication type:
    Article

  • Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease.

    Published in:
    2021
    By:
    • Potter, Jane E.;
    • Petts, Gemma;
    • Ghosh, Arunabha;
    • White, Fiona J.;
    • Kinsella, Jane L.;
    • Hughes, Stephen;
    • Roberts, Jane;
    • Hodgkinson, Adam;
    • Brammeier, Kathryn;
    • Church, Heather;
    • Merrigan, Christine;
    • Hughes, Joanne;
    • Evans, Pamela;
    • Campbell, Helen;
    • Bonney, Denise;
    • Newman, William G.;
    • Bigger, Brian W.;
    • Broomfield, Alexander;
    • Jones, Simon A.;
    • Wynn, Robert F.
    Publication type:
    journal article