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In this pedigree, all the three affected patients (III:2, III:3 and III:4) were found to harbor both of the two missense mutations in CBS

Deproteinize the sample by addition of 10 l of 60% (w/v) TCA

However, to state unequivocally that the use of Mps is advantageous over phototherapy for these ELBW infants, who appear to be more sensitive to the adverse effects of phototherapy, is complex and mostly speculative

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Specialist formulated creams form the basis of treatment, along with a high factor sunscreen

10.1016/j.phymed.2024.155401 94 LiY.ChenF.ChenJ.ChanS.HeY.LiuW.et al (2020c)