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Autor:
Artur, Mazur, Jolanta, Sykut-Cegielska, Marta, Ciebiera, Jadwiga, Trzeciak, Joanna, Taybert, Agnieszka, Kowalik, Mariusz, Ołtarzewski
Publikováno v:
Medycyna wieku rozwojowego. 11(1)
Maple Syrup Urine Disease (MSUD) is a severe metabolic disorder secondary to an enzyme defect in the catabolic pathway of the branched chain amino acids: leucine, isoleucine and valine. Accumulation of these amino acids and derived from them alpha-ke