Work

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

Year: 2020

Type: article

Study design: Case Report

Source: Journal of the Neurological Sciences

DOI: 10.1016/j.jns.2020.116757

Authors: Christina Zompola, Lina Palaiodimou, Panagiotis Kokotis, Marianna Papadopoulou, Aikaterini Theodorou, Nikolaos Sabanis, Efterpi Theodoroula, Matilda Papathanasiou, Georgios Tsivgoulis, Elisabeth Chroni

Institutions: National and Kapodistrian University of Athens, University General Hospital Attikon, Eginition Hospital, University of West Attica, University of Patras, University of Tennessee Health Science Center

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W3008019686

FWCI: 2.013

Cites: 7

Cited by: 12

Related to: 10