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Fig. 1 | Hereditas

Fig. 1

From: SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency

Fig. 1

A novel threshold for determining NPD subtypes. A ASM levels in clinical cases are collected. B ROC curve for the predictability of the threshold. ASM ratio, the ratio of the activity of acid sphingomyelin phosphodiesterase of the patients to the reference value; NPA, Niemann–Pick disease type A; NPB, Niemann–Pick disease type B; ROC, receiver operating characteristic curve; AUC, area under the curve

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Hereditas

ISSN: 1601-5223

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