A Case of <i>DNAJC12</i>-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection

• 主要な著者: Colleen Donnelly (著者), Lissette Estrella (著者), Ilona Ginevic (著者), Jaya Ganesh (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2024-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

<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...