Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening
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DOI: 10.1016/j.ymgmr.2020.100611
Abstract: In Japan, carnitine palmitoyltransferase II (CPTII) deficiency has been included as one of the primary target diseases in the expanded newborn mass screening program since 2018. However, many cases of the severe infantile hepatocardiomuscular form… read more here.
Keywords: expanded newborn; management; clinical management; carnitine palmitoyltransferase ... See more keywords