https://www.selleckchem.com/pr....oducts/BMS-794833.ht
Unlike the previous published article, two of our patients showed altered type 1 pattern and one of them with rectal bleeding that could be a sign of PMM2-congenital disorders of glycosylation. Conclusion We propose the study of this gene when carrying out the diagnosis of patients with HH, especially in the neonatal period and when a recessive polycystic kidney disease without alterations in PKDH1 is diagnosed.Objectives Established reference intervals of thyroid function in neonates are important; however, studies often consist of