DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant
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DOI: 10.1007/s11011-021-00753-0
Abstract: In addition to tetrahydrobiopterin deficiencies and phenylalanine hydroxylase deficiency (phenylketonuria) due to PAH variants, the deficiency of the co-chaperone protein DNAJC12 was identified in 2017 as a novel cause of inherited hyperphenylalaninemia, revealing the genetic… read more here.
Keywords: dnacj12 deficiency; unexplained hyperphenylalaninemia; patients unexplained; deficiency ... See more keywords