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. Author manuscript; available in PMC: 2017 Aug 2.
Published in final edited form as: Mol Genet Metab. 2016 Feb 15;118(1):15–20. doi: 10.1016/j.ymgme.2016.02.002

Table 4.

Cases reported to have abnormal developmental outcome (excluding the infant with Down Syndrome and the infant with prematurity/hearing loss.)

Case
number
NBS C5OH
(µM)
Neonatal
period
Gross
motor
Fine
motor
Speech Social &
emotional
Special
education
Other
2 3.21 Normal x x x x Sees neurology and is on antiepileptic medication
14 9.42 Normal x x Later normalized
19 13.2 Normal x x
28 2.2 Jaundiced x