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104 (Suppl 4), 715740 (1996)

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For de novo NADPH synthesis pathway, correlation studies have revealed that thionicotinamide adenine dinucleotide (NADS) and thionicotinamide adenine dinucleotide phosphate (NADPS), converted from the pro-drug thionicotinamide (TN), act as inhibitors of NADKs through targeting the NAD-binding site of NADKs and decreasing the levels of NADPH

Relevant screening tests include karyotype analysis to identify abnormal chromosomal number or structure, cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation, and Y chromosome microdeletions