phosphoribosyl pyrophosphate synthetase deficiency

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[1][2]

Epidemiology

  • rare

Genetics

deficiency in PRPS1 associated with

More general terms

Additional terms

References

  1. ↑ Phosphoribosylpyrophosphate synthetase deficiency Genetic and Rare Diseases Information Center (GARD) http://rarediseases.info.nih.gov/GARD/Condition/4337/Phosphoribosylpyrophosphate_synthetase_deficiency.aspx
  2. ↑ OMIM https://mirror.omim.org/entry/311850
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