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: L312P

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: L312P

PubMed Link: 27147233

Variant Present in the following documents:

• Main text

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N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.

The Application Of Clinical Genetics

Ah Mew, Nicholas N; Caldovic, Ljubica L

Publication Date: 2011

Variant appearance in text: NAGS: L312P

PubMed Link: 23776373

Variant Present in the following documents:

• tacg-4-127.pdf

View BVdb publication page