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Abnormal phosphoribosylpyrophosphate synthetase level

MedGen UID:
Concept ID:
HPO: HP:0032459


Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal phosphoribosylpyrophosphate synthetase level

Recent clinical studies


Fountoulakis M, Gulesserian T, Lubec G
J Neural Transm Suppl 2003;(67):85-93. doi: 10.1007/978-3-7091-6721-2_7. PMID: 15068241


Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW; FORGE Canada Consortium, Roelofsen J, van Kuilenburg AB, Mendoza-Londono R
Eur J Hum Genet 2015 Mar;23(3):310-6. Epub 2014 Jun 25 doi: 10.1038/ejhg.2014.112. PMID: 24961627Free PMC Article
Simmonds HA, Webster DR, Wilson J, Lingham S
Lancet 1982 Jul 10;2(8289):68-70. doi: 10.1016/s0140-6736(82)91690-7. PMID: 6123809
Zoref E, De Vries A, Sperling O
J Clin Invest 1975 Nov;56(5):1093-9. doi: 10.1172/JCI108183. PMID: 171280Free PMC Article

Clinical prediction guides

Kitzmueller E, Greber S, Fountoulakis M, Lubec G
J Neural Transm Suppl 2001;(61):203-10. doi: 10.1007/978-3-7091-6262-0_16. PMID: 11771744

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