CLSI NBS07-Ed1:2017 (R2022)

CLSI NBS07-Ed1:2017 (R2022)

Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid alpha-Glucosidase Activity Assays, 1st Edition, NBS07Ed1E

193,00 €


This report discusses the detection of Pompe disease (PD) by population-based newborn screening using dried blood spot specimens to measure acid a-glucosidase enzyme activity. Classic infantile-onset PD is a lethal disorder that is not evident at birth, and therapy effectiveness is improved by presymptomatic detection.

Información adicional

Autor Clinical and Laboratory Standards Institute (CLSI)
Publicado por CLSI
Tipo de Documento Norma
Tema /subgroups/17906
Fecha de confirmación 2022-01-01
EAN ISBN 1562388142
Número de páginas 70
Palabra clave CLSI NBS07-Ed1