A Case of <i>DNAJC12</i>-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection
<i>DNAJC12</i>-deficient hyperphenylalaninemia is a recently described inborn error of metabolism associated with hyperphenylalaninemia, neurotransmitter deficiency, and developmental delay caused by biallelic pathogenic variants of the <i>DNAJC12</i> gene. The loss of the &l...
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| Main Authors: | , , , |
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| Format: | Book |
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MDPI AG,
2024-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |