Literature DB >> 16650077

Gene discovery in methylmalonic aciduria and homocystinuria.

J Thiele1, J M Van Raamsdonk.   

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Year:  2006        PMID： 16650077     DOI： 10.1111/j.1399-0004.2006.00595c.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

Authors:  Fei Wang; Lianshu Han; Yanling Yang; Xuefan Gu; Jun Ye; Wenjuan Qiu; Huiwen Zhang; Yafen Zhang; Xiaolan Gao; Yu Wang
Journal:  J Inherit Metab Dis       Date:  2010-10-06       Impact factor: 4.982

2.  Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type.

Authors:  Paul Hoff Backe; Mari Ytre-Arne; Asmund Kjendseth Røhr; Else Brodtkorb; Brian Fowler; Helge Rootwelt; Magnar Bjørås; Lars Mørkrid
Journal:  JIMD Rep       Date:  2013-04-12
  2 in total

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