Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

Author:

Lin Chia-WeiORCID,Kalb Stephanie J.,Yeh Wei-Shi

Funder

Biogen

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference36 articles.

1. Spinal muscular atrophy;D'Amico;Orphanet J Rare Dis,2011

2. Newborn and carrier screening for spinal muscular atrophy;Prior;Am J Med Genet A,2010

3. Childhood spinal muscular atrophy: controversies and challenges;Mercuri;Lancet Neurol,2012

4. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens;Sugarman;Eur J Hum Genet,2012

5. Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity;Harada;J Neurol,2002

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