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Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Am J Hum Genet. 2010 Sep 10;87(3):392-9. doi: 10.1016/j.ajhg.2010.07.023.
Am J Hum Genet. 2010.
PMID: 20797690
Free PMC article.
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Monico CG, Rossetti S, Belostotsky R, Cogal AG, Herges RM, Seide BM, Olson JB, Bergstrahl EJ, Williams HJ, Haley WE, Frishberg Y, Milliner DS.
Monico CG, et al.
Clin J Am Soc Nephrol. 2011 Sep;6(9):2289-95. doi: 10.2215/CJN.02760311.
Clin J Am Soc Nephrol. 2011.
PMID: 21896830
Free PMC article.
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4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3.
Pitt JJ, Willis F, Tzanakos N, Belostotsky R, Frishberg Y.
Pitt JJ, et al.
JIMD Rep. 2015;15:1-6. doi: 10.1007/8904_2013_291. Epub 2014 Feb 22.
JIMD Rep. 2015.
PMID: 24563386
Free PMC article.
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Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.
MacDonald JR, Huang AD, Loomes KM.
MacDonald JR, et al.
FEBS Lett. 2016 May;590(10):1467-76. doi: 10.1002/1873-3468.12181. Epub 2016 May 10.
FEBS Lett. 2016.
PMID: 27096395
Free article.
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Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH; BabySeq Project Team.
Ceyhan-Birsoy O, et al.
Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016.
Am J Hum Genet. 2019.
PMID: 30609409
Free PMC article.
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