Literature DB >> 28431603

Extending the aceruloplasminemia phenotype: NBIA on imaging and acanthocytosis, yet only minor neurological findings.

Rebecca Kassubek1, Ingo Uttner2, Carlos Schönfeldt-Lecuona3, Jan Kassubek2, Bernhard J Connemann3.   

Abstract

Entities:  

Keywords:  Acanthocytosis; Aceruloplasminemia; NBIA

Mesh：

Substances：

Year:  2017        PMID： 28431603     DOI： 10.1016/j.jns.2017.03.019

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


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  3 in total

1.  Disturbed Red Blood Cell Structure and Function: An Exploration of the Role of Red Blood Cells in Neurodegeneration.

Authors:  Giel J C G M Bosman
Journal:  Front Med (Lausanne)       Date:  2018-07-16

2.  "Neuroacanthocytosis" - Overdue for a Taxonomic Update.

Authors:  Ruth H Walker; Adrian Danek
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2021-01-11

3.  A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of aceruloplasminemia patients.

Authors:  Wan-Qing Xu; Wang Ni; Rou-Min Wang; Yi Dong; Zhi-Ying Wu
Journal:  Metab Brain Dis       Date:  2021-08-04       Impact factor: 3.584
  3 in total

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