Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-013-9662-7
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2. El-Gharbawy AH, Goldstein JL, Millington DS et al (2013) Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab 109:215–217
3. Item CB, Stockler-Ipsiroglu S, Stromberger C et al (2001) Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet 69:1127–1133
4. Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali M (2011) Disorders of creatine transport and metabolism. Am J Med Genet C: Semin Med Genet 157:72–78
5. McHugh DM, Cameron CA, Abdenur JE et al (2011) Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med 13:230–254
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