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. 2021 Jul;36(7):2067-2068.
doi: 10.1007/s00467-020-04910-y. Epub 2021 Jan 18.

A rare cause of urolithiasis in an infant: Answers

Mustafa Koyun  1 , Muhammet Sancaktar  2 , Gülşah Kaya Aksoy  2 , Elif Çomak  2 , Ayla Kaçar  2 , Mehtap Adar  2 , Afig Berdeli  3 , Sema Akman  2
Affiliations

A rare cause of urolithiasis in an infant: Answers

Mustafa Koyun et al. Pediatr Nephrol. 2021 Jul.
No abstract available

Keywords: 2.8-Dihydroxyadeninuria; 6-Amino-2,8-purinedione; APRT deficiency; Allopurinol; Child; Hematuria; Kidney stones.

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References

    1. Edvardsson VO, Goldfarb DS, Lieske JC, Beara-Lasic L, Anglani F, Milliner DS, Palsson R (2013) Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol 28:1923–1942 - DOI
    1. Evan AP, Bledsoe SB, Connors BA, Deng L, Liang L, Shao C, Fineberg NS, Grynpas MD, Stambrook PJ, Youzhi S, Sahota A, Tischfield JA (2001) Sequential analysis of kidney stone formation in the Aprt knockout mouse. Kidney Int 60:910–923 - DOI
    1. Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I (2012) Adenine phosphoribosyltransferase deficiency. Clin J Am Soc Nephrol 7:1521–1527 - DOI
    1. Harambat J, Bollée G, Daudon M, Ceballos-Picot I, Bensman A, APRT Study Group (2012) Adenine phosphoribosyltransferase deficiency in children. Pediatr Nephrol 27:571–579 - DOI
    1. Bollée G, Dollinger C, Boutaud L, Guillemotet D, Bensman A, Harambat J, Deteix P, Daudon M, Knebelmann B, Ceballos-Picot I (2010) Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol 21:679–688 - DOI

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