N-Acetylglutamate Synthase Deficiency Latest Advances

Use of pure recombinant human enzymes to assess the disease-causing potential of missense mutations in urea cycle disorders, applied to N-acetylglutamate synthase deficiency.

Journal: Journal of inherited metabolic disease

Published: January 23, 2024

The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency.

Journal: Orphanet journal of rare diseases

Published: November 08, 2023

Datamining approaches for examining the low prevalence of N-acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes.

Journal: Journal of inherited metabolic disease

Published: May 30, 2023

Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.

Journal: JIMD reports

Published: February 21, 2023

N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.

Journal: JIMD reports

Published: May 07, 2022

Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 11, 2020

Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.

Journal: International journal of neonatal screening

Published: August 15, 2020

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.

Journal: Orphanet journal of rare diseases

Published: June 25, 2020

A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.

Journal: Archivos argentinos de pediatria

Published: June 17, 2020

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

Journal: Molecular genetics and metabolism reports

Published: October 04, 2019

Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.

Journal: Scientific reports

Published: April 05, 2019

Carglumic Acid Treatment of a Patient with Recurrent Valproic Acid-induced Hyperammonemia: A Rare Case Report.

Journal: Cureus

Published: November 17, 2018