Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2016_2
Reference14 articles.
1. American College of Medical Genetics’ Newborn Screening Expert Group (2006) Newborn screening: toward a uniform screening panel and system. Genet Med 8 (Suppl 1):1S–252S. doi: 10.1097/01.gim.0000223891.82390.ad
2. Balmer C, Pandey AV, Rüfenacht V et al (2014) Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Hum Mutat 35:27–35. doi: 10.1002/humu.22469
3. Engel K, Vuissoz J-M, Eggimann S et al (2012) Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. J Inherit Metab Dis 35:133–140. doi: 10.1007/s10545-011-9357-x
4. Erez A, Nagamani SCS, Lee B (2011) Argininosuccinate lyase deficiency-Argininosuccinic aciduria and beyond. Am J Med Genet Part C Semin Med Genet 157:45–53. doi: 10.1002/ajmg.c.30289
5. Estrella J, Wilcken B, Carpenter K et al (2014) Expanded newborn screening in New South Wales: missed cases. J Inherit Metab Dis 37:881–887. doi: 10.1007/s10545-014-9727-2
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