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A systematic review of these data is available [17]

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

1,86 Large fiber neuropathy Large fiber neuropathy affects larger myelinated A fibers, resulting in sensory and motor deficits

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[8] Those with intellectual disability alone had more benefits than ASD, and saw an improvement in hypotonia (low muscle tone) A child with primary carnitine deficiency presented with atypical features of the disease, including a developmental delay involving language skills, concentration, and attention span, as well as autistic features and brain alterations apparent in magnetic resonance imaging