Publications:

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Prevalence of exposure to pharmacogenetic drugs by the Saudis treated at the health care centers of the Ministry of National Guard.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society

Alshabeeb, Mohammad A MA; Alyabsi, Mesnad M; Paras, Bien B

Publication Date: 2022-08

Variant appearance in text: rs104894604

PubMed Link: 36164570

Variant Present in the following documents:

• Main text
• main.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: NAGS: 971G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency.

Jimd Reports

Reigstad, Hallvard H; Woldseth, Berit B; Häberle, Johannes J

Publication Date: 2017

Variant appearance in text: NAGS: 971G>A; Trp324*

PubMed Link: 28275973

Variant Present in the following documents:

• Main text

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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: Trp324Ter

PubMed Link: 27147233

Variant Present in the following documents:

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Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Scientifica

Chaturvedi, Swati S; Singh, Ashok K AK; Keshari, Amit K AK; Maity, Siddhartha S; Sarkar, Srimanta S; Saha, Sudipta S

Publication Date: 2016

Variant appearance in text: NAGS: Trp324Ter

PubMed Link: 27051561

Variant Present in the following documents:

• Main text
• SCIENTIFICA2016-9828672.pdf

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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: W324X

PubMed Link: 23776373

Variant Present in the following documents:

• Main text
• tacg-4-127.pdf

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Mammalian N-acetylglutamate synthase.

Molecular Genetics And Metabolism

Morizono, Hiroki H; Caldovic, Ljubica L; Shi, Dashuang D; Tuchman, Mendel M

Publication Date: 2004-04

Variant appearance in text: NAGS: Trp324Ter

PubMed Link: 15050968

Variant Present in the following documents:

• Main text

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