Publications:

Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.

Jimd Reports

van de Logt, Anne-Els AE; Kluijtmans, Leo A J LA; Huigen, Marleen C D G MC; Janssen, Mirian C H MC

Publication Date: 2017

Variant appearance in text: NAGS: Thr431Leu

PubMed Link: 27147233

Variant Present in the following documents:

• Main text

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