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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
1979 1
1980 2
1982 1
1985 1
1988 1
1989 1
1990 3
1991 1
1992 5
1993 3
1994 2
1996 1
1998 4
1999 1
2001 4
2002 1
2003 2
2004 2
2006 1
2007 2
2008 2
2009 1
2010 6
2011 4
2012 4
2013 1
2014 4
2015 3
2016 5
2017 1
2018 5
2019 3
2020 2
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Similar Articles for PMID: 20150536

75 results
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Page 1
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
Bollée G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, Deteix P, Daudon M, Knebelmann B, Ceballos-Picot I. Bollée G, et al. J Am Soc Nephrol. 2010 Apr;21(4):679-88. doi: 10.1681/ASN.2009080808. Epub 2010 Feb 11. J Am Soc Nephrol. 2010. PMID: 20150536 Free PMC article.
Adenine phosphoribosyltransferase deficiency in children.
Harambat J, Bollée G, Daudon M, Ceballos-Picot I, Bensman A; APRT Study Group. Harambat J, et al. Pediatr Nephrol. 2012 Apr;27(4):571-9. doi: 10.1007/s00467-011-2037-0. Epub 2012 Jan 3. Pediatr Nephrol. 2012. PMID: 22212387
Adenine phosphoribosyltransferase deficiency.
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I. Bollée G, et al. Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7. doi: 10.2215/CJN.02320312. Epub 2012 Jun 14. Clin J Am Soc Nephrol. 2012. PMID: 22700886 Free article. Review.
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.
Deng L, Yang M, Fründ S, Wessel T, De Abreu RA, Tischfield JA, Sahota A. Deng L, et al. Mol Genet Metab. 2001 Mar;72(3):260-4. doi: 10.1006/mgme.2000.3142. Mol Genet Metab. 2001. PMID: 11243733
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
Ikeda H, Watanabe T, Fujimoto Y, Yamamoto S, Hosaki I, Isoyama K, Kawano S, Chiba M. Ikeda H, et al. Hinyokika Kiyo. 2011 Jan;57(1):15-9. Hinyokika Kiyo. 2011. PMID: 21304254 Free article. Japanese.
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
Ceballos-Picot I, Daudon M, Harambat J, Bensman A, Knebelmann B, Bollée G. Ceballos-Picot I, et al. Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):241-52. doi: 10.1080/15257770.2013.853780. Nucleosides Nucleotides Nucleic Acids. 2014. PMID: 24940675 Review.
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
Nozue H, Kamoda T, Saitoh H, Ichikawa K, Taniguchi A. Nozue H, et al. Acta Paediatr. 2011 Dec;100(12):e285-8. doi: 10.1111/j.1651-2227.2011.02371.x. Epub 2011 Jun 17. Acta Paediatr. 2011. PMID: 21635362
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.
Iwaki T, Kusaka T, Ohashi I, Nishida T, Imai T, Itoh S. Iwaki T, et al. Pediatr Nephrol. 2010 Jun;25(6):1173-6. doi: 10.1007/s00467-009-1430-4. Epub 2010 Jan 26. Pediatr Nephrol. 2010. PMID: 20101413
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
Valaperta R, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, Costa E. Valaperta R, et al. BMC Nephrol. 2014 Jul 1;15:102. doi: 10.1186/1471-2369-15-102. BMC Nephrol. 2014. PMID: 24986359 Free PMC article.
[Adenine phosphoribosyltransferase(APRT) deficiency].
Kamatani N. Kamatani N. Nihon Rinsho. 1996 Dec;54(12):3321-7. Nihon Rinsho. 1996. PMID: 8976113 Review. Japanese.
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