Literature DB >> 29360903

Richner-Hanhart syndrome (tyrosinemia type II).

Fanny Locatelli, Eve Puzenat, Jean B Arnoux, Dominique Blanc, Francois Aubin1.   

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Year:  2017        PMID： 29360903

Source DB:  PubMed          Journal:  Cutis        ISSN： 0011-4162


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  2 in total

1.  HPD degradation regulated by the TTC36-STK33-PELI1 signaling axis induces tyrosinemia and neurological damage.

Authors:  Yajun Xie; Xiaoyan Lv; Dongsheng Ni; Jianing Liu; Yanxia Hu; Yamin Liu; Yunhong Liu; Rui Liu; Hui Zhao; Zhimin Lu; Qin Zhou
Journal:  Nat Commun       Date:  2019-09-19       Impact factor: 14.919

2.  Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria.

Authors:  L R Ranganath; A M Milan; A T Hughes; A S Davison; Khedr M; B P Norman; G Bou-Gharios; J A Gallagher; R Imrich; J B Arnoux; M Rudebeck; B Olsson
Journal:  Sci Rep       Date:  2022-09-27       Impact factor: 4.996
  2 in total

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