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Assessment and Application of Acylcarnitines Summations As Auxiliary Quantization Indicator for Primary Carnitine Deficiency

Haijuan Zhi, Siyu Chang, Ting Chen,Lili Liang,Wenjuan Qiu,Huiwen Zhang,Xuefan Gu,Lianshu Han

International Journal of Neonatal Screening(2025)

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Key words
primary carnitine deficiency,free carnitine,acylcarnitine summation,machine learning,screening and diagnosis,false positive,rare disease
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