View in EDS

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

Saved in:
Bibliographic Details
Title: Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect
Authors: Santoro, Massimo1,2, Modoni, Anna1, Sabatelli, Mario1, Madia, Francesca1, Piemonte, Fiorella3, Tozzi, Giulia3, Ricci, Enzo1,2, Tonali, Pietro A.1,2, Silvestri, Gabriella1,2 gsilvestri@rm.unicatt.it
Source: Molecular Genetics & Metabolism. May2007, Vol. 91 Issue 1, p111-114. 4p.
Database: Academic Search Ultimate
FullText Text:
  Availability: 0
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 24697564
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Santoro%2C+Massimo%22">Santoro, Massimo</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22Modoni%2C+Anna%22">Modoni, Anna</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Sabatelli%2C+Mario%22">Sabatelli, Mario</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Madia%2C+Francesca%22">Madia, Francesca</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Piemonte%2C+Fiorella%22">Piemonte, Fiorella</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Tozzi%2C+Giulia%22">Tozzi, Giulia</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Ricci%2C+Enzo%22">Ricci, Enzo</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22Tonali%2C+Pietro+A%2E%22">Tonali, Pietro A.</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22Silvestri%2C+Gabriella%22">Silvestri, Gabriella</searchLink><relatesTo>1,2</relatesTo><i> gsilvestri@rm.unicatt.it</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Metabolism%22">Molecular Genetics & Metabolism</searchLink>. May2007, Vol. 91 Issue 1, p111-114. 4p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=24697564
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ymgme.2006.12.004
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 4
        StartPage: 111
    Titles:
      – TitleFull: Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Santoro, Massimo
      – PersonEntity:
          Name:
            NameFull: Modoni, Anna
      – PersonEntity:
          Name:
            NameFull: Sabatelli, Mario
      – PersonEntity:
          Name:
            NameFull: Madia, Francesca
      – PersonEntity:
          Name:
            NameFull: Piemonte, Fiorella
      – PersonEntity:
          Name:
            NameFull: Tozzi, Giulia
      – PersonEntity:
          Name:
            NameFull: Ricci, Enzo
      – PersonEntity:
          Name:
            NameFull: Tonali, Pietro A.
      – PersonEntity:
          Name:
            NameFull: Silvestri, Gabriella
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: May2007
              Type: published
              Y: 2007
          Identifiers:
            – Type: issn-print
              Value: 10967192
          Numbering:
            – Type: volume
              Value: 91
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Molecular Genetics & Metabolism
              Type: main
ResultId 1