2013•The Journal of PediatricsOpen access

Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry

C. Ronald Scott, Susan Elliott, Norman E. Buroker, Lauren Thomas, Joan Keutzer, Michael Glass, Michael H. Gelb, František Tureček

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Key concepts: Newborn screening, Fabry disease, Medicine, Enzyme replacement therapy, Dried blood spot, Mucopolysaccharidosis, Mucopolysaccharidosis I, Dried blood

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Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry — Research Paper | ScholarLens