NAD(P)HX dehydratase (NAXD) deficiency
Published January 16, 2019
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READ THE FULL PAPER: https://bit.ly/2ANvG4M The nicotinamide nucleotide repair system comprises two enzymes: NAXD and NAXE. Van Bergen et al. identify the first pathogenic variants in NAXD in infants who suffered febrile illness-associated neurodegeneration and cardiac failure. NAXD deficiency leads to accumulation of …
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- January 16, 2019
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