Newborn Screening for Lysosomal Storage Disorders in Belgium
Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe disease, Fabry disease and mucopolysaccharidosis...
Uloženo v:
| Hlavní autoři: | , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
2017-11-01
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| Edice: | Journal of Inborn Errors of Metabolism and Screening |
| On-line přístup: | https://doi.org/10.1177/2326409817744231 |
| Tagy: |
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