Publications:

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.

Molecular Genetics And Metabolism Reports

Al Kaabi, Eiman H EH; El-Hattab, Ayman W AW

Publication Date: 2016-09

Variant appearance in text: NAGS: E433G

PubMed Link: 27570737

Variant Present in the following documents:

• main.pdf

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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: E433G

PubMed Link: 27147233

Variant Present in the following documents:

• Main text

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Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

The Canadian Journal Of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques

Cartagena, A A; Prasad, A N AN; Rupar, C A CA; Strong, M M; Tuchman, M M; Ah Mew, N N; Prasad, C C

Publication Date: 2013-01

Variant appearance in text: NAGS: E433G

PubMed Link: 23250120

Variant Present in the following documents:

• Main text

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