Newborn Screening for Spinal Muscular Atrophy and Lysosomal Storage Disorders Takes Advantage of Novel Therapies

Affiliations

Editorial

Hans C Andersson. J Pediatr. 2017 Nov.

. 2017 Nov:190:9-10.

doi: 10.1016/j.jpeds.2017.08.016.

¹ Hayward Genetics Center Tulane University Medical School New Orleans, Louisiana. Electronic address: handers@tulane.edu.

No abstract available

Keywords: Fabry; Gaucher; MPS-I; Niemann-Pick; Pompe; lysosomal; newborn screening; spinal muscular atrophy; storage disorder.

Comment on

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening.
Chien YH, Chiang SC, Weng WC, Lee NC, Lin CJ, Hsieh WS, Lee WT, Jong YJ, Ko TM, Hwu WL. Chien YH, et al. J Pediatr. 2017 Nov;190:124-129.e1. doi: 10.1016/j.jpeds.2017.06.042. Epub 2017 Jul 12. J Pediatr. 2017. PMID: 28711173 Clinical Trial.
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
Burton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR, Schneider M, Grange DK, Nash C, Shryock H, Barnett R, Shao R, Basheeruddin K, Dizikes G. Burton BK, et al. J Pediatr. 2017 Nov;190:130-135. doi: 10.1016/j.jpeds.2017.06.048. Epub 2017 Jul 17. J Pediatr. 2017. PMID: 28728811