About 33 results

ALLMedicine™ Argininosuccinic Aciduria Center

Research & Reviews  12 results

Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders.
Journal of Inherited Metabolic Disease REFERENCES; Brambilla A, Bianchi ML et. al.

May 6th, 2019 - No data are available on the specific energy needs of patients affected with Urea Cycle disorders (UCD) and especially argininosuccinic aciduria (ASA). In our experience, ASA patients tend to develop central adiposity and hypertriglyceridemia when...

Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Me...
Journal of Pediatric Gastroenterology and Nutrition; Porta F, Romagnoli R et. al.

Apr 10th, 2019 - Liver transplant (LT) is a therapeutic option for a growing number of inborn errors of metabolism (IEM), including some disorders not confined to the liver. Clinical advantages of LT in maple syrup urine disease (MSUD), methylmalonic acidemia (MMA...

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
Journal of Inherited Metabolic Disease; Baruteau J, Diez-Fernandez C et. al.

Feb 7th, 2019 - The first patients affected by argininosuccinic aciduria (ASA) were reported 60 years ago. The clinical presentation was initially described as similar to other urea cycle defects, but increasing evidence has shown overtime an atypical systemic ph...

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene tran...
Nature Communications; Baruteau J, Perocheau DP et. al.

Aug 31st, 2018 - Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterised by hyperammonaemia, multiorgan dis...

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Journal of Inherited Metabolic Disease; Baruteau J, Jameson E et. al.

Mar 3rd, 2017 - This UK-wide study defines the natural history of argininosuccinic aciduria and compares long-term neurological outcomes in patients presenting clinically or treated prospectively from birth with ammonia-lowering drugs. Retrospective analysis of m...

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News  1 results

Nitric Oxide Works When BP Drugs Fail

Apr 27th, 2012 - Action Points Nitric oxide supplements were able to rein in treatment-resistant hypertension in a patient with argininosuccinic aciduria (ASA), one of the most common urea-cycle disorders. Note that ASA is a congenital disorder that renders patien...

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