Inhibition of interleukin-1-stimulated MAP kinases, activating protein-1 (AP-1) and nuclear factor kappa B (NF-B) transcription factors down-regulates matrix metalloproteinase gene expression in articular chondrocytes
An infant is diagnosed with PCD if the free carnitine level in dried blood spot (DBS) is below the cutoff established in our laboratory (described below), and with compound heterozygous or homozygous variants in SLC22A5
Funding This work was supported by the Basque Government (IT1620-22)
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