View in EDS PDF Full Text

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

Saved in:
Bibliographic Details
Title: From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.
Authors: Corbaz S; Department of Neurology, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Pibernus DA; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Loos MA; Department of Neurology, 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 MC; Department of Neurology, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., García FM; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Rodriguez MP; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Rugilo C; Department of Radiology, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Armeno M; Department of Nutrition, Hospital de Pediatría 'Prof Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Seo GH; 3billion Inc, Seoul, South Korea., Khang R; 3billion Inc, Seoul, South Korea., Alonso CN; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Aráoz HV; Molecular Biology Laboratory, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina.
Source: Journal of child neurology [J Child Neurol] 2025 Dec 23, pp. 8830738251404115. Date of Electronic Publication: 2025 Dec 23.
Publication Type: Journal Article
Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41432672
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Corbaz+S%22">Corbaz S</searchLink>; Department of Neurology, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Pibernus+DA%22">Pibernus DA</searchLink>; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Loos+MA%22">Loos MA</searchLink>; Department of Neurology, 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+MC%22">Buompadre MC</searchLink>; Department of Neurology, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22García+FM%22">García FM</searchLink>; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Rodriguez+MP%22">Rodriguez MP</searchLink>; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Rugilo+C%22">Rugilo C</searchLink>; Department of Radiology, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Armeno+M%22">Armeno M</searchLink>; Department of Nutrition, Hospital de Pediatría 'Prof Dr. Juan P. Garrahan,' Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Seo+GH%22">Seo GH</searchLink>; 3billion Inc, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Khang+R%22">Khang R</searchLink>; 3billion Inc, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Alonso+CN%22">Alonso CN</searchLink>; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Aráoz+HV%22">Aráoz HV</searchLink>; Molecular Biology Laboratory, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%228606714%22">Journal of child neurology</searchLink> [J Child Neurol] 2025 Dec 23, pp. 8830738251404115. <i>Date of Electronic Publication: </i>2025 Dec 23.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Sage%22">Sage </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8606714 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1708-8283 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208830738%22">08830738 </searchLink><i>NLM ISO Abbreviation: </i>J Child Neurol <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41432672
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1177/08830738251404115
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 8830738251404115
    Titles:
      – TitleFull: From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Corbaz S
      – PersonEntity:
          Name:
            NameFull: Pibernus DA
      – PersonEntity:
          Name:
            NameFull: Loos MA
      – PersonEntity:
          Name:
            NameFull: Pérez MM
      – PersonEntity:
          Name:
            NameFull: Buompadre MC
      – PersonEntity:
          Name:
            NameFull: García FM
      – PersonEntity:
          Name:
            NameFull: Rodriguez MP
      – PersonEntity:
          Name:
            NameFull: Rugilo C
      – PersonEntity:
          Name:
            NameFull: Armeno M
      – PersonEntity:
          Name:
            NameFull: Seo GH
      – PersonEntity:
          Name:
            NameFull: Khang R
      – PersonEntity:
          Name:
            NameFull: Alonso CN
      – PersonEntity:
          Name:
            NameFull: Aráoz HV
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 23
              M: 12
              Text: 2025 Dec 23
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1708-8283
          Titles:
            – TitleFull: Journal of child neurology
              Type: main
ResultId 1