Publications:

Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family.

Molecular Genetics And Metabolism Reports

Peoc'h, Katell K; Damaj, Léna L; Pelletier, Romain R; Lefèvre, Charles C; Dubourg, Christèle C; Denis, Marie-Christine MC; Bendavid, Claude C; Odent, Sylvie S; Moreau, Caroline C

Publication Date: 2020-03

Variant appearance in text: NAGS: 1313dupG; Thr439Hisfs*52

PubMed Link: 32021803

Variant Present in the following documents:

• Main text
• main.pdf

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: NAGS: 1307_1308insG; Thr439fs

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 20
• pone.0210079.s007.xlsx, sheet 4

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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: 1313dupG; T439Hfs

PubMed Link: 27570737

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page