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Combined results of NBS programs in Australia, Germany and USA report an incidence of 1:750,0001:2,000,000 [55], but numbers on prevalence are scarce since CPT2 deficiency has not been introduced in most NBS panels
[(accessed on 10 June 2025)]
10.1523/jneurosci.18-20-08417.1998 79 McConnellS
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