Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening
Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (OTCD) and carbamoyl phosphate synthetase 1 deficie...
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| Main Authors: | , , |
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| Format: | Book |
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MDPI AG,
2020-10-01T00:00:00Z.
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