View in EDS

NAXD Encephalopathy Mimicking Neuroinflammatory Disease.

Saved in:
Bibliographic Details
Title: NAXD Encephalopathy Mimicking Neuroinflammatory Disease.
Authors: Garcia RV; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Aráoz HV; Genomics Unit, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.; Molecular Biology Laboratory, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Pérez MM; Genomics Unit, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Buompadre C; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Montoya SG; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Rugilo C; Imaging Department, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Loria JS; National Centre for Genomics and Bioinformatics, ANLIS 'Dr. Carlos G. Malbrán', Buenos Aires, Argentina., Kim J; 3billion Inc., Seoul, South Korea., Aschettino G; Genomics Unit, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Alonso C; Genomics Unit, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Monges S; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Loos M; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr; Vol. 200 (4), pp. 854-861. Date of Electronic Publication: 2025 Nov 30.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41320557
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: NAXD Encephalopathy Mimicking Neuroinflammatory Disease.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Garcia+RV%22">Garcia RV</searchLink>; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Aráoz+HV%22">Aráoz HV</searchLink>; Genomics Unit, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.; Molecular Biology Laboratory, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Pérez+MM%22">Pérez MM</searchLink>; Genomics Unit, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Buompadre+C%22">Buompadre C</searchLink>; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Montoya+SG%22">Montoya SG</searchLink>; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Rugilo+C%22">Rugilo C</searchLink>; Imaging Department, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Loria+JS%22">Loria JS</searchLink>; National Centre for Genomics and Bioinformatics, ANLIS 'Dr. Carlos G. Malbrán', Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; 3billion Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Aschettino+G%22">Aschettino G</searchLink>; Genomics Unit, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Alonso+C%22">Alonso C</searchLink>; Genomics Unit, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Monges+S%22">Monges S</searchLink>; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Loos+M%22">Loos M</searchLink>; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2026 Apr; Vol. 200 (4), pp. 854-861. <i>Date of Electronic Publication: </i>2025 Nov 30.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Case Reports
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41320557
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmga.70013
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 854
    Titles:
      – TitleFull: NAXD Encephalopathy Mimicking Neuroinflammatory Disease.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Garcia RV
      – PersonEntity:
          Name:
            NameFull: Aráoz HV
      – PersonEntity:
          Name:
            NameFull: Pérez MM
      – PersonEntity:
          Name:
            NameFull: Buompadre C
      – PersonEntity:
          Name:
            NameFull: Montoya SG
      – PersonEntity:
          Name:
            NameFull: Rugilo C
      – PersonEntity:
          Name:
            NameFull: Loria JS
      – PersonEntity:
          Name:
            NameFull: Kim J
      – PersonEntity:
          Name:
            NameFull: Aschettino G
      – PersonEntity:
          Name:
            NameFull: Alonso C
      – PersonEntity:
          Name:
            NameFull: Monges S
      – PersonEntity:
          Name:
            NameFull: Loos M
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 2026 Apr
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1552-4833
          Numbering:
            – Type: volume
              Value: 200
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: American journal of medical genetics. Part A
              Type: main
ResultId 1