View in EDS

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.

Saved in:
Bibliographic Details
Title: ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Authors: Shah R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Eklund EA; Department of Clinical Sciences, Lund, Pediatrics, Lund University, Lund, Sweden; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Radenkovic S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Sadek M; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Shammas I; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Verberkmoes S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Ng BG; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., He M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kozicz T; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; University of Pécs, Medical School, Pécs, Hungary., Altassan R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Medical Genomics, Centre for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: raltassan@kfshrc.edu.sa., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; University of Pécs, Medical School, Pécs, Hungary. Electronic address: Morava-Kozicz.Eva@mayo.edu.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108472. Date of Electronic Publication: 2024 Apr 23.
Publication Type: Journal Article; Review
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 38703411
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Shah+R%22">Shah R</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Eklund+EA%22">Eklund EA</searchLink>; Department of Clinical Sciences, Lund, Pediatrics, Lund University, Lund, Sweden; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Radenkovic+S%22">Radenkovic S</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Sadek+M%22">Sadek M</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Shammas+I%22">Shammas I</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Verberkmoes+S%22">Verberkmoes S</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Ng+BG%22">Ng BG</searchLink>; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.<br /><searchLink fieldCode="AU" term="%22Freeze+HH%22">Freeze HH</searchLink>; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.<br /><searchLink fieldCode="AU" term="%22Edmondson+AC%22">Edmondson AC</searchLink>; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22He+M%22">He M</searchLink>; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Kozicz+T%22">Kozicz T</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; University of Pécs, Medical School, Pécs, Hungary.<br /><searchLink fieldCode="AU" term="%22Altassan+R%22">Altassan R</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Medical Genomics, Centre for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: raltassan@kfshrc.edu.sa.<br /><searchLink fieldCode="AU" term="%22Morava+E%22">Morava E</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; University of Pécs, Medical School, Pécs, Hungary. Electronic address: Morava-Kozicz.Eva@mayo.edu.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229805456%22">Molecular genetics and metabolism</searchLink> [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108472. <i>Date of Electronic Publication: </i>2024 Apr 23.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Review
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9805456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1096-7206 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210967192%22">10967192 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38703411
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ymgme.2024.108472
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 108472
    Titles:
      – TitleFull: ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Shah R
      – PersonEntity:
          Name:
            NameFull: Eklund EA
      – PersonEntity:
          Name:
            NameFull: Radenkovic S
      – PersonEntity:
          Name:
            NameFull: Sadek M
      – PersonEntity:
          Name:
            NameFull: Shammas I
      – PersonEntity:
          Name:
            NameFull: Verberkmoes S
      – PersonEntity:
          Name:
            NameFull: Ng BG
      – PersonEntity:
          Name:
            NameFull: Freeze HH
      – PersonEntity:
          Name:
            NameFull: Edmondson AC
      – PersonEntity:
          Name:
            NameFull: He M
      – PersonEntity:
          Name:
            NameFull: Kozicz T
      – PersonEntity:
          Name:
            NameFull: Altassan R
      – PersonEntity:
          Name:
            NameFull: Morava E
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 06
              Text: 2024 Jun
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1096-7206
          Numbering:
            – Type: volume
              Value: 142
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Molecular genetics and metabolism
              Type: main
ResultId 1