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Fig. 3 | Genome Medicine

Fig. 3

From: Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China

Fig. 3

Influencing factors on lysosomal enzyme activity. A Lysosomal enzyme activity in carriers of multiple P/LP variants for LSDs. GALC + SMPD1: individuals with P/LP variants in both GALC and SMPD1. GAA + SMPD1: individuals with P/LP variants in both GAA and SMPD1. B Lysosomal enzyme activity in newborns with positive NBGS results for other diseases. PAH: hyperphenylalaninemia-related gene. G6PD: glucose-6-phosphate dehydrogenase deficiency gene. PHKA1: glycogen storage disease IX d-related gene. DUOX2: congenital hypothyroidism-related gene. DMD: Duchenne muscular dystrophy-related gene. ATP7B: hepatolenticular degeneration-related gene. NS, not significant. *P < 0.05; **P < 0.01

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