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About 103 results

ALLMedicine™ Argininosuccinic Aciduria Center

Research & Reviews  35 results

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

Feb 27th, 2023 - 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...

Coronary Vasospasm in a Patient With Argininosuccinic Aciduria.
https://doi.org/10.1016/j.amjcard.2023.01.036
The American Journal of Cardiology; Nagayoshi Y, Nakayama M et. al.

Feb 23rd, 2023 - A 39-year-old male was referred for treatment of hypertension. He had been treated for argininosuccinic aciduria since 8 months of age. Therapeutic drugs, including l-arginine, sodium phenylbutyrate, and antiepileptic drugs, had been prescribed. A...

Clinical findings of patients with hyperammonemia affected by urea cycle disorders with...
https://doi.org/10.1002/jdn.10229
International Journal of Developmental Neuroscience : The... Lopes FF, Sitta A et. al.

Sep 22nd, 2022 - Urea cycle disorders (UCD) are a group of genetic diseases caused by deficiencies in the enzymes and transporters involved in the urea cycle. The impairment of the cycle results in ammonia accumulation, leading to neurological dysfunctions and poo...

Liver Transplantation in Children with Urea Cycle Disorders: The Importance of Minimizi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291867
Liver Transplantation : Official Publication of the Ameri... Ziogas IA, Wu WK et. al.

Jun 1st, 2021 - Liver transplantation (LT) for children with urea cycle disorders (UCDs) is capable of correcting the enzymatic defect and preventing progressive neurologic injury. We describe the characteristics and outcomes of pediatric LT recipients with UCDs....

Nitric Oxide Supplementation in Argininosuccinic Aciduria
https://clinicaltrials.gov/ct2/show/NCT02252770

Jan 18th, 2020 - The investigators will perform a double blind, randomized, placebo-controlled, crossover study of NO supplementation in ASA patients assessing endothelial function and blood pressure as primary endpoints, and markers of nitric oxide production as ...

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Clinicaltrials.gov  4 results

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

Feb 27th, 2023 - 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...

Nitric Oxide Supplementation in Argininosuccinic Aciduria
https://clinicaltrials.gov/ct2/show/NCT02252770

Jan 18th, 2020 - The investigators will perform a double blind, randomized, placebo-controlled, crossover study of NO supplementation in ASA patients assessing endothelial function and blood pressure as primary endpoints, and markers of nitric oxide production as ...

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...

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  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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