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About 48 results

ALLMedicine™ Argininosuccinic Aciduria Center

Research & Reviews  16 results

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

Aug 19th, 2021 - 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...

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...

Argininosuccinate Lyase (ASL) Deficiency
https://emedicine.medscape.com/article/950752-overview

Jan 7th, 2019 - Background Argininosuccinate (ASA) lyase deficiency results in defective cleavage of ASA. This leads to an accumulation of ASA in cells and an excessive excretion of ASA in urine. In virtually all respects, this disorder shares the characteristics...

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Clinicaltrials.gov  1 results

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

Aug 19th, 2021 - 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...

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News  2 results

Inability to Grow Long Hair: A Presentation of Trichorrhexis Nodosa
https://www.mdedge.com/dermatology/article/97706/hair-nails/inability-grow-long-hair-presentation-trichorrhexis-nodosa
Teresa Sisto, MD, Carolina Bussoletti, MD et. al.

Mar 5th, 2015 - To the Editor: First identified by Samuel Wilks in 1852, trichorrhexis nodosa (TN) is a congenital or acquired hair shaft disorder that is characterized by fragile and easily broken hair. 1 Congenital TN is rare and can occur in syndromes such as p.

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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