October/November 2013 - Volume 9 - Issue 5 - Contributor Index

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The Test of a Lifetime: Screening for rare disorders can save lives.

Paturel, Amy

Neurology Now. 9(5):23-27, October/November 2013.

For babies with one of the rare genetic disorders called lysosomal storage diseases—such as Krabbe or Pompe disease—early diagnosis and treatment are critical. Many infants with these diseases die before their second birthday. But the trajectory of these young lives could be dramatically different with a $1 test performed at birth.