Found: 2

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  • Genetic basis of hyperlysinemia.

    Published in:
    2013
    By:
    • Houten, Sander M;
    • Te Brinke, Heleen;
    • Denis, Simone;
    • Ruiter, Jos Pn;
    • Knegt, Alida C;
    • de Klerk, Johannis Bc;
    • Augoustides-Savvopoulou, Persephone;
    • Häberle, Johannes;
    • Baumgartner, Matthias R;
    • Coskun, Turgay;
    • Zschocke, Johannes;
    • Sass, Jörn Oliver;
    • Poll-The, Bwee Tien;
    • Wanders, Ronald Ja;
    • Duran, Marinus;
    • Coşkun, Turgay
    Publication type:
    journal article

  • Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

    Published in:
    European Journal of Human Genetics, 1999, v. 7, n. 4, p. 505, doi. 10.1038/sj.ejhg.5200315
    By:
    • Stone, Deborah L;
    • Diggelen, Otto P van;
    • Klerk, Johannis BC de;
    • Gaillard, Johannes LJ;
    • Niermeijer, Martinus F;
    • Willemsen, Rob;
    • Tayebi, Nahid;
    • Sidransky, Ellen
    Publication type:
    Article