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Autor:
M A, Vilaseca Busca, A, Ribes Rubio, P, Briones Godino, V, Cusi Sánchez, R, Baraíbar Castelló, J M, Gairi Taull
Publikováno v:
Anales espanoles de pediatria. 32(2)
A new case of neonatal 3-hydroxy-3-methylglutaric aciduria is described. 3-hydroxy-3-methylglutaryl CoA lyase activities in leukocytes demonstrated the patient's homozygosity and the heterozygous character of the parents and two other members of the