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Comment
. 2022 Dec;64(12):1441-1442.
doi: 10.1111/dmcn.15380. Epub 2022 Aug 17.

Intelligent biomarker panel development for neurometabolic disease

Phillip L Pearl  1
Affiliations
Free article
Comment

Intelligent biomarker panel development for neurometabolic disease

Phillip L Pearl. Dev Med Child Neurol. 2022 Dec.
Free article
No abstract available

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References

REFERENCES

    1. Vanier MT. Niemann-Pick diseases. Handb Clin Neurol. 2013;113:1717-21.
    1. Vanier MT, Gissen P, Bauer P, et al. Diagnostic tests of Niemann-Pick disease type C (NP-C): A critical review. Molec Gen Metab. 2016;118:244-54.
    1. Geberhiwot T, Moro A, Dardis A, et al. Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018;13:50.
    1. Papandreou A, Doykov I, Spiewak J, et al. Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders. Dev Med Child Neurol. 2022; https://onlinelibrary.wiley.com/doi/full/10.1111/dmcn.15334
    1. Mengel E, Patterson MC, Da Riol RM, et al. Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results form a double-blind, randomized, placebo-controlled, multinational phase 2/3 trial of a novel treatment. J Inherit Metab Dis. 2021;44:1463-80.

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