Upon signing informed consent, participants provided biological samples, including de-identified blood samples, which were processed for DNA extraction and genotyping
Published April 22, 2021
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They showed that all altered testicular anti-oxidants and mRNA expression of apoptotic, pro-apoptotic, and anti-apoptotic genes were improved by preadministration of L-carnitine in -irradiated mice, providing evidence for the protective effects of L-carnitine against testicular oxidative stress as well as apoptosis caused by -irradiation at biochemical, molecular, and cellular levels (66)
As the neonatal form of CPT II deficiency is typically fatal, early confirmation of the diagnosis should prompt advance care planning discussions with the parents to support timely, appropriate care and informed decision-making in the best interest of the child
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