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This condition is inherited in an autosomal recessive manner Secondary Carnitine Deficiency Syndrome can also occur, in which case it develops because of other metabolic disorders in the body Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome

doi: 10.1248/cpb.32.4089 81 MacherRBurkeTWOwenSS

Supporting NAD production may help maintain cell function over time

A rational treatment plan includes pharmacologic and nonpharmacologic options

Methods Study cohort In an initial evaluation,20 DBS specimens collected from patients with confirmed PCD were used to assess the robustness of the iPLEX assay

(67) (gastrointestinal tract complaints) and An et al