Kluijtmans LAJ, Boers GHJ, Stevens EMB, Renier WO, Kraus JP, Trijbels FJM, van den Heuvel LPWJ, Blom HJ: Defective cystathionine beta-synthase regulation by S-adenosyl-methionine in a partially pyridoxine responsive homocysteinuria patient
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the AITC treatment increased even more the difference for pad2-1 through the concentration range than for the WT, whereas the reduction between the two highest doses of BSO was less pronounced on the mutant compared to WT
Salmaso C, Bagnasco M, Pesce G, Montagna P, Brizzolara R, Altrinetti V, Richiusa P, Galluzzo A, Giordano C