A Case of SMA with Pompe Disease in India

The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) for lysosomal storage diseases (LSDs). We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases.

A newborn baby has been identified as having SMA (spinal muscular atrophy) in Westmead Children’s Hospital in Australia, using a 4-plex SMA, SCID and XLA laboratory developed test

Professor Mei Baker discusses Identifying Spinal Muscular Atrophy and Severe Combined Immunodeficiency using Real-time PCR newborn screening