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  • BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 3003, doi. 10.1093/brain/awad010
    By:
    • Tangeraas, Trine;
    • Constante, Juliana R;
    • Backe, Paul Hoff;
    • Oyarzábal, Alfonso;
    • Neugebauer, Julia;
    • Weinhold, Natalie;
    • Boemer, Francois;
    • Debray, François G;
    • Ozturk-Hism, Burcu;
    • Evren, Gumus;
    • Tuba, Eminoglu F;
    • Ummuhan, Oncul;
    • Footitt, Emma;
    • Davison, James;
    • Martinez, Caroline;
    • Bueno, Clarissa;
    • Machado, Irene;
    • Rodríguez-Pombo, Pilar;
    • Al-Sannaa, Nouriya;
    • Santos, Mariela De Los
    Publication type:
    Article