Neurological phenotype in Fabry disease: case series with GLA missense variant c.749 A > C (p.Gln250Pro).

Saved in:
Bibliographic Details
Title: Neurological phenotype in Fabry disease: case series with GLA missense variant c.749 A > C (p.Gln250Pro).
Authors: Stamenković, Marija1,2 (AUTHOR) marija.stamenkovic@mf.uns.ac.rs, Slavić, Danijel1 (AUTHOR) danijel.slavic@mf.uns.ac.rs, Rajić, Sonja1,2 (AUTHOR) sonja.rajic@mf.uns.ac.rs, Hajder, Dragica1,2 (AUTHOR) dragica.hajder@mf.uns.ac.rs, Popović, Sanela1,2 (AUTHOR) sanela.popovic@mf.uns.ac.rs, Jovićević, Predrag1,3 (AUTHOR) predrag.jovicevic@mf.uns.ac.rs, Jovićević, Maša1,4 (AUTHOR) masa.jovic@mf.uns.ac.rs, Ćelić, Dejan1,5 (AUTHOR) dejan.celic@mf.uns.ac.rs, Živanović, Željko1,2 (AUTHOR) zeljko.zivanovic@mf.uns.ac.rs
Source: Egyptian Journal of Neurology, Psychiatry & Neurosurgery. 6/15/2026, Vol. 62 Issue 1, p1-6. 6p.
Database: Academic Search Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 194575983
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Neurological phenotype in Fabry disease: case series with GLA missense variant c.749 A > C (p.Gln250Pro).
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Stamenković%2C+Marija%22">Stamenković, Marija</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> marija.stamenkovic@mf.uns.ac.rs</i><br /><searchLink fieldCode="AR" term="%22Slavić%2C+Danijel%22">Slavić, Danijel</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> danijel.slavic@mf.uns.ac.rs</i><br /><searchLink fieldCode="AR" term="%22Rajić%2C+Sonja%22">Rajić, Sonja</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> sonja.rajic@mf.uns.ac.rs</i><br /><searchLink fieldCode="AR" term="%22Hajder%2C+Dragica%22">Hajder, Dragica</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> dragica.hajder@mf.uns.ac.rs</i><br /><searchLink fieldCode="AR" term="%22Popović%2C+Sanela%22">Popović, Sanela</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> sanela.popovic@mf.uns.ac.rs</i><br /><searchLink fieldCode="AR" term="%22Jovićević%2C+Predrag%22">Jovićević, Predrag</searchLink><relatesTo>1,3</relatesTo> (AUTHOR)<i> predrag.jovicevic@mf.uns.ac.rs</i><br /><searchLink fieldCode="AR" term="%22Jovićević%2C+Maša%22">Jovićević, Maša</searchLink><relatesTo>1,4</relatesTo> (AUTHOR)<i> masa.jovic@mf.uns.ac.rs</i><br /><searchLink fieldCode="AR" term="%22Ćelić%2C+Dejan%22">Ćelić, Dejan</searchLink><relatesTo>1,5</relatesTo> (AUTHOR)<i> dejan.celic@mf.uns.ac.rs</i><br /><searchLink fieldCode="AR" term="%22Živanović%2C+Željko%22">Živanović, Željko</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> zeljko.zivanovic@mf.uns.ac.rs</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Egyptian+Journal+of+Neurology%2C+Psychiatry+%26+Neurosurgery%22">Egyptian Journal of Neurology, Psychiatry & Neurosurgery</searchLink>. 6/15/2026, Vol. 62 Issue 1, p1-6. 6p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=194575983
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s41983-026-01192-3
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 6
        StartPage: 1
    Titles:
      – TitleFull: Neurological phenotype in Fabry disease: case series with GLA missense variant c.749 A > C (p.Gln250Pro).
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Stamenković, Marija
      – PersonEntity:
          Name:
            NameFull: Slavić, Danijel
      – PersonEntity:
          Name:
            NameFull: Rajić, Sonja
      – PersonEntity:
          Name:
            NameFull: Hajder, Dragica
      – PersonEntity:
          Name:
            NameFull: Popović, Sanela
      – PersonEntity:
          Name:
            NameFull: Jovićević, Predrag
      – PersonEntity:
          Name:
            NameFull: Jovićević, Maša
      – PersonEntity:
          Name:
            NameFull: Ćelić, Dejan
      – PersonEntity:
          Name:
            NameFull: Živanović, Željko
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 15
              M: 06
              Text: 6/15/2026
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-print
              Value: 11101083
          Numbering:
            – Type: volume
              Value: 62
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Egyptian Journal of Neurology, Psychiatry & Neurosurgery
              Type: main
ResultId 1