Literature DB >> 21488232

Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria.

Angela Robbiano1, Giorgia Mandrile, Mario De Marchi, Bodo Beck, Anne Baasner, Luisa Murer, Elisa Benetti, Daniela Giachino.   

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Year:  2010        PMID： 21488232

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  5 in total

1.  Diagnostic and clinical utility of genetic testing in children with kidney failure.

Authors:  Jing Chen; Fang Lin; Yihui Zhai; Chunyan Wang; Bingbing Wu; Duan Ma; Jia Rao; Jiaojiao Liu; Jialu Liu; Minghui Yu; Qian Shen; Hong Xu
Journal:  Pediatr Nephrol       Date:  2021-05-24       Impact factor: 3.714

2.  Hyperoxaluria leads to dysbiosis and drives selective enrichment of oxalate metabolizing bacterial species in recurrent kidney stone endures.

Authors:  Mangesh V Suryavanshi; Shrikant S Bhute; Swapnil D Jadhav; Manish S Bhatia; Rahul P Gune; Yogesh S Shouche
Journal:  Sci Rep       Date:  2016-10-06       Impact factor: 4.379

3.  Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease.

Authors:  Giorgia Mandrile; Alessandra Pelle; Veronica Sciannameo; Elisa Benetti; Maria Michela D'Alessandro; Francesco Emma; Giovanni Montini; Licia Peruzzi; Michele Petrarulo; Renato Romagnoli; Corrado Vitale; Barbara Cellini; Daniela Giachino
Journal:  J Nephrol       Date:  2022-02-26       Impact factor: 3.902

4.  Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.

Authors:  Guo-min Li; Hong Xu; Qian Shen; Yi-nv Gong; Xiao-yan Fang; Li Sun; Hai-mei Liu; Yu An
Journal:  BMC Nephrol       Date:  2014-06-17       Impact factor: 2.388

5.  Primary hyperoxaluria type 1 in 18 children: genotyping and outcome.

Authors:  Mohamed S Al Riyami; Badria Al Ghaithi; Nadia Al Hashmi; Naifain Al Kalbani
Journal:  Int J Nephrol       Date:  2015-03-30
  5 in total

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