Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency-Reference-Cited by-同舟云学术

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Published:2016-04-01 Issue:3 Volume:39 Page:331-340
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Huemer Martina,Carvalho Daniel R.,Brum Jaime M.,Ünal Özlem,Coskun Turgay,Weisfeld-Adams James D.,Schrager Nina L.,Scholl-Bürgi Sabine,Schlune Andrea,Donner Markus G.,Hersberger Martin,Gemperle Claudio,Riesner Brunhilde,Ulmer Hanno,Häberle Johannes,Karall Daniela

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-016-9928-y/fulltext.html

Reference33 articles.

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2. Amayreh W, Meyer U, Das AM (2014) Treatment of arginase deficiency revisited: guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring. Dev Med Child Neurol 56:1021–1024

3. Anderssohn M, Schwedhelm E, Lüneburg N, Vasan RS, Böger RH (2010) Asymmetric dimethylarginine as a mediator of vascular dysfunction and a marker of cardiovascular disease and mortality: an intriguing interaction with diabetes mellitus. Diab Vasc Dis Res 7:105–118

4. Andrade F, Llarena M, Lage S, Aldámiz-Echevarría L (2015) Quantification of arginine and its methylated derivatives in healthy children by liquid chromatography-tandem mass spectrometry. J Chromatogr Sci 53:787–792

5. Arias A, Ormazabal A, Moreno J et al (2006) Methods for the diagnosis of creatine deficiency syndromes: a comparative study. J Neurosci Methods 156:305–309

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