Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders

Mol Genet Metab. 2013 Jan;108(1):106. doi: 10.1016/j.ymgme.2012.11.004. Epub 2012 Nov 16.
No abstract available

Publication types

  • Letter

MeSH terms

  • Hexosaminidases / metabolism*
  • Humans
  • Infant, Newborn
  • Lysosomal Storage Diseases / metabolism*
  • Neonatal Screening*
  • Predictive Value of Tests

Substances

  • Hexosaminidases
  • chitotriosidase