Authors: ABDENUR JE CHAMOLES NA GUINLE AE SCHENONE AB FUERTES ANJ

Citation: Je. Abdenur et al., DIAGNOSIS OF ISOVALERIC ACIDEMIA BY TANDEM MASS-SPECTROMETRY - FALSE-POSITIVE RESULT DUE TO PIVALOYLCARNITINE IN A NEWBORN SCREENING-PROGRAM, Journal of inherited metabolic disease, 21(6), 1998, pp. 624-630

Authors: PEREZ B DESVIAT LR DIE M CORNEJO V CHAMOLES NA NICOLINI H UGARTE M

Citation: B. Perez et al., PRESENCE OF THE MEDITERRANEAN PKU MUTATION IVS10 IN LATIN-AMERICA, Human molecular genetics, 2(8), 1993, pp. 1289-1290

Authors: BARTH PG HOFFMANN GF JAEKEN J WANDERS RJA DURAN M JANSEN GA JAKOBS C LEHNERT W HANEFELD F VALK J SCHUTGENS RBH TREFZ FK HARTUNG HP CHAMOLES NA SFAELLO Z CARUSO U

Citation: Pg. Barth et al., L-2-HYDROXYGLUTARIC ACIDEMIA - CLINICAL AND BIOCHEMICAL FINDINGS IN 12 PATIENTS AND PRELIMINARY-REPORT ON L-2-HYDROXYACID DEHYDROGENASE, Journal of inherited metabolic disease, 16(4), 1993, pp. 753-761

Authors: PEREZ B DESVIAT LR DIE M NICOLINI H VELAZQUEZ A CHAMOLES NA FUSTA M SPECOLA NB COLOMO M RAIMANN E CORNEJO V UGARTE M

Citation: B. Perez et al., PKU IN LATIN-AMERICA - IVS10 MUTATION REPORT, American journal of human genetics, 53(3), 1993, pp. 841-841