Four novel variants identi ed in primary hyperoxaluria and genotypic and phenotypic analysis in 21 chinese patients

HIGHLIGHTS

  • who: . and collaborators from the Sohag University, Egypt Mahidol University, Thailand have published the article: Four novel variants identi ed in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients, in the Journal: (JOURNAL)
  • how: This article described a series of 21 Chinese PH patients (12 of PH1 3 of PH2 and 6 of PH3) with a wide clinical spectrum ranging from asymptomatic nephrolithiasis to ESKD and investigated their genotype-phenotype correlations.

SUMMARY

    Type-specific diagnosis of PH: glycolate elevation (>0.418 mmol/ mmol Cr) suggests PH1, elevated glycerate . . .

     

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