Literature DB >> 32109691

The mutation D313Y may be associated with nervous system manifestations in Fabry disease.

Christina Zompola1, Lina Palaiodimou2, Panagiotis Kokotis3, Marianna Papadopoulou4, Aikaterini Theodorou1, Nikolaos Sabanis5, Efterpi Theodoroula6, Matilda Papathanasiou7, Georgios Tsivgoulis8, Elisabeth Chroni6.   

Abstract

Entities:  

Keywords:  D313Y mutation; Fabry disease; GLA gene; Nervous system manifestations

Mesh：

Substances：

Year:  2020        PMID： 32109691     DOI： 10.1016/j.jns.2020.116757

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


× No keyword cloud information.
  1 in total

1.  Prevalence of Fabry Disease among Patients with Parkinson's Disease.

Authors:  Alexandra Lackova; Christian Beetz; Sebastian Oppermann; Peter Bauer; Petra Pavelekova; Tatiana Lorincova; Miriam Ostrozovicova; Kristina Kulcsarova; Jana Cobejova; Martin Cobej; Petra Levicka; Simona Liesenerova; Daniela Sendekova; Viktoria Sukovska; Zuzana Gdovinova; Vladimir Han; Mie Rizig; Henry Houlden; Matej Skorvanek
Journal:  Parkinsons Dis       Date:  2022-01-24
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.