View in EDS

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.

Saved in:
Bibliographic Details
Title: Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.
Authors: Tsygankova P; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Bychkov I; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Minzhenkova M; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Pechatnikova N; Morozov Children's City Clinical Hospital, 4th Dobryninskij per, 1/9, Moscow, Russia., Bessonova L; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Buyanova G; Regional Children's Clinical Hospital of Chelyabinsk, 454076 Chelyabinsk, 42a Blucher Street, Russia., Naumchik I; Republican scientific medical center 'Mother and child', Minsk, Belarus, 66 Orlovskaya str., Minsk 220053, Belarus., Beskorovainiy N; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Tabakov V; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Itkis Y; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Shilova N; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Zakharova E; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.
Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Jun 23; Vol. 32, pp. 100889. Date of Electronic Publication: 2022 Jun 23 (Print Publication: 2022).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 35782291
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Tsygankova+P%22">Tsygankova P</searchLink>; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bychkov+I%22">Bychkov I</searchLink>; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Minzhenkova+M%22">Minzhenkova M</searchLink>; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Pechatnikova+N%22">Pechatnikova N</searchLink>; Morozov Children's City Clinical Hospital, 4th Dobryninskij per, 1/9, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bessonova+L%22">Bessonova L</searchLink>; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Buyanova+G%22">Buyanova G</searchLink>; Regional Children's Clinical Hospital of Chelyabinsk, 454076 Chelyabinsk, 42a Blucher Street, Russia.<br /><searchLink fieldCode="AU" term="%22Naumchik+I%22">Naumchik I</searchLink>; Republican scientific medical center 'Mother and child', Minsk, Belarus, 66 Orlovskaya str., Minsk 220053, Belarus.<br /><searchLink fieldCode="AU" term="%22Beskorovainiy+N%22">Beskorovainiy N</searchLink>; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Tabakov+V%22">Tabakov V</searchLink>; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Itkis+Y%22">Itkis Y</searchLink>; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Shilova+N%22">Shilova N</searchLink>; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Zakharova+E%22">Zakharova E</searchLink>; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101624422%22">Molecular genetics and metabolism reports</searchLink> [Mol Genet Metab Rep] 2022 Jun 23; Vol. 32, pp. 100889. <i>Date of Electronic Publication: </i>2022 Jun 23 (<i>Print Publication: </i>2022).
– 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="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101624422 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2214-4269 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222144269%22">22144269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab Rep <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35782291
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ymgmr.2022.100889
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 100889
    Titles:
      – TitleFull: Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Tsygankova P
      – PersonEntity:
          Name:
            NameFull: Bychkov I
      – PersonEntity:
          Name:
            NameFull: Minzhenkova M
      – PersonEntity:
          Name:
            NameFull: Pechatnikova N
      – PersonEntity:
          Name:
            NameFull: Bessonova L
      – PersonEntity:
          Name:
            NameFull: Buyanova G
      – PersonEntity:
          Name:
            NameFull: Naumchik I
      – PersonEntity:
          Name:
            NameFull: Beskorovainiy N
      – PersonEntity:
          Name:
            NameFull: Tabakov V
      – PersonEntity:
          Name:
            NameFull: Itkis Y
      – PersonEntity:
          Name:
            NameFull: Shilova N
      – PersonEntity:
          Name:
            NameFull: Zakharova E
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 23
              M: 06
              Text: 2022 Jun 23
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-print
              Value: 2214-4269
          Numbering:
            – Type: volume
              Value: 32
          Titles:
            – TitleFull: Molecular genetics and metabolism reports
              Type: main
ResultId 1