Dried Blood Spot Samples for Pompe, Fabry, Gaucher and Mucopolysacharidosis (Mps): Our First Year Experience

Author Details

Jorge Sales Marques, Rachel Chan Tzun, Tsoi Cheung, Vanessa Amaral, Nicole Vong

Journal Details

Archives of Pediatrics and Neonatology - ISSN - 2638-5155, Volume 1, Issue 1

Published

Published: 6 May 2018 | Article Type :

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doi 10.22259/2638-5155.0101004

Abstract

Pompe, Gaucher, Fabry and MPS are lysosomal disorders. The new era of enzyme replace therapy (ERT) changed the prognosis of these diseases. Is important to diagnose as soon as possible to reduce the risk of a fatal evolution. We used dried blood spot samples in patients with 2 criteria of one of these diseases during a period of one year. We screened 18 cases (Pompe: 13, MPS 1: 3, Gaucher: 2, Fabry: 0). In our first year experience we confirmed a case of MPS 1 and a Pompe disease.

Keywords: dried blood spot, lysosomal storage disease.

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Volume 1, Issue 1

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Citation:

Jorge Sales Marques, Rachel Chan Tzun, Tsoi Cheung, Vanessa Amaral, Nicole Vong. (2018-05-06). "Dried Blood Spot Samples for Pompe, Fabry, Gaucher and Mucopolysacharidosis (Mps): Our First Year Experience." *Volume 1*, 1, 13-16