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About 55 results

ALLMedicine™ Argininosuccinic Aciduria Center

Research & Reviews  18 results

Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders.
https://doi.org/10.1002/jimd.12108
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...
https://doi.org/10.1097/MPG.0000000000002354
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.
https://doi.org/10.1002/jimd.12047
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...

Arginase Deficiency 
https://emedicine.medscape.com/article/941838-print

Jan 7th, 2019 - Background Arginase deficiency is thought to be the least common of the urea cycle disorders. This entity also manifests itself in a fashion somewhat different from other disorders in the group (see Physical). Two separate isozymes of the enzyme a...

Arginase Deficiency
https://emedicine.medscape.com/article/941838-overview

Jan 7th, 2019 - Background Arginase deficiency is thought to be the least common of the urea cycle disorders. This entity also manifests itself in a fashion somewhat different from other disorders in the group (see Physical). Two separate isozymes of the enzyme a...

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Clinicaltrials.gov  3 results

Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
https://clinicaltrials.gov/ct2/show/NCT00345605

Jan 31st, 2018 - The cause of liver damage in people with ASA is unknown. However, because ASA is the only urea cycle disorder that is characterized by both liver damage and elevated levels of argininosuccinic acid, researchers believe that the elevated acid level...

Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD
https://clinicaltrials.gov/ct2/show/NCT03064048

Jan 18th, 2018 - Argininosuccinate lyase deficiency (ASLD; also known as argininosuccinic aciduria) is the second most common urea cycle disorder (UCD) and accounts for 15-20% of all disorders of ureagenesis. Individuals with ASLD can have unique clinical and phys...

Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders
https://clinicaltrials.gov/ct2/show/NCT00004767

Jun 24th, 2005 - PROTOCOL OUTLINE: This protocol describes several clinical studies of pharmacologic and dietary management in patients with urea cycle disorders. Patients with carbamyl phosphate synthetase and ornithine transcarbamylase deficiency are treated wit...

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News  1 results

Nitric Oxide Works When BP Drugs Fail
https://www.medpagetoday.com/cardiology/hypertension/32383

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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