Mutation spectrum of gene in patients with tetrahydrobiopterin de from jiangxi province

HIGHLIGHTS

  • who: -pyruvoyltetrahydropterin et al. from the Sohag University, Egypt Sapienza University of Rome, Italy have published the research work: Mutation spectrum of gene in patients with tetrahydrobiopterin de from jiangxi province, in the Journal: (JOURNAL)
  • what: The analysis of urinary pterins profile, and BH4 loading test results, and the determination of DHPR activity in red blood cells can be used in the differential diagnosis between PAHD and BH4D (Opladen et_al, 2011; Elhawary et_al, 2022).
  • how: Measurement data were compared with analysis of variance.

SUMMARY

    Approximately 98% of HPA cases . . .

     

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