KEGG   NETWORK: N01419
Entry
N01419                      Network                                
Name
APRT deficiency in purine salvage pathway
Definition
Adenine // APRT*
  Expanded
C00147 // 353v1
Class
nt06027 Purine salvage pathway
Type
Variant
Disease
H00195  Adenine phosphoribosyltransferase deficiency
Gene
353  APRT; adenine phosphoribosyltransferase
Variant
353v1 (APRT*)  APRT deficiency
Metabolite
C00147  Adenine
Reference
PMID:24940675
  Authors
Ceballos-Picot I, Daudon M, Harambat J, Bensman A, Knebelmann B, Bollee G
  Title
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
  Journal
Nucleosides Nucleotides Nucleic Acids 33:241-52 (2014)
DOI:10.1080/15257770.2013.853780
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