Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine-Reference-Cited by-同舟云学术

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine

Published:2016-08-03 Issue:6 Volume:39 Page:821-829
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Gomez-Ospina Natalia^ORCID,Scott Anna I.,Oh Gia J.,Potter Donald,Goel Veena V.,Destino Lauren,Baugh Nancy,Enns Gregory M.,Niemi Anna-Kaisa,Cowan Tina M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-016-9963-8.pdf

Reference18 articles.

1. Bavarsad Shahripour R, Harrigan MR, Alexandrov AV (2014) N-acetylcysteine (NAC) in neurological disorders: mechanisms of action and therapeutic opportunities. Brain Behav 4:108–122

2. Blackford MG, Felter T, Gothard MD, Reed MD (2011) Assessment of the clinical use of intravenous and oral N-acetylcysteine in the treatment of acute acetaminophen poisoning in children: a retrospective review. Clin Ther 33:1322–1330

3. Borden M, Holm J, Leslie J et al (1992) Hawkinsinuria in two families. Am J Med Genet 44:52–56

4. Brooker G, Jeffery J, Nataraj T, Sair M, Ayling R (2007) High anion gap metabolic acidosis secondary to pyroglutamic aciduria (5-oxoprolinuria): association with prescription drugs and malnutrition. Ann Clin Biochem 44:406–409

5. Brownlee JM, Heinz B, Bates J, Moran GR (2010) Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria. Biochemistry 49:7218–7226

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