“DBMD”是“Duchenne and Becker Muscular Dystrophy”的

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“G6PDD”是“Glucose-6-phosphate dehydrogenase

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“BH4D”是“tetrahydrobiopterin deficiency”的缩写，意

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“BH4D”是“tetrahydrobiopterin deficiency”的缩写，意

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“DHPR”是“dihydropteridine reductase”的缩写，意思是“

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“PCD”是“-pterin-4α-carbinolamine dehydratase”的缩

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“MS/MS”是“tandem mass spectrometry”的缩写，意思是“

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“EGAPP”是“Evaluation of Genomic Applications in

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“HCY”是“homocysteinuria”的缩写，意思是“同型半胱氨酸

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“IEM”是“Inborn Errors of Metabolism”的缩写，意思是“

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