View in EDS

Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” α-galactosidase a large deletion

Saved in:
Bibliographic Details
Title: Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” α-galactosidase a large deletion
Authors: Feldt-Rasmussen, Ulla1 ufeldt@rh.dk, Dobrovolny, Robert2, Nazarenko, Irina2, Ballegaard, Martin3, Hasholt, Lis4, Rasmussen, Åse K.1, Christensen, Erik I.5, Sorensen, Soren S.6, Wibrand, Flemming7, Desnick, Robert J.2 robert.desnick@mssm.edu
Source: Molecular Genetics & Metabolism. Nov2011, Vol. 104 Issue 3, p314-318. 5p.
Database: Academic Search Ultimate
FullText Text:
  Availability: 0
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 67079671
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” α-galactosidase a large deletion
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Feldt-Rasmussen%2C+Ulla%22">Feldt-Rasmussen, Ulla</searchLink><relatesTo>1</relatesTo><i> ufeldt@rh.dk</i><br /><searchLink fieldCode="AR" term="%22Dobrovolny%2C+Robert%22">Dobrovolny, Robert</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Nazarenko%2C+Irina%22">Nazarenko, Irina</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Ballegaard%2C+Martin%22">Ballegaard, Martin</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Hasholt%2C+Lis%22">Hasholt, Lis</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AR" term="%22Rasmussen%2C+Åse+K%2E%22">Rasmussen, Åse K.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Christensen%2C+Erik+I%2E%22">Christensen, Erik I.</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AR" term="%22Sorensen%2C+Soren+S%2E%22">Sorensen, Soren S.</searchLink><relatesTo>6</relatesTo><br /><searchLink fieldCode="AR" term="%22Wibrand%2C+Flemming%22">Wibrand, Flemming</searchLink><relatesTo>7</relatesTo><br /><searchLink fieldCode="AR" term="%22Desnick%2C+Robert+J%2E%22">Desnick, Robert J.</searchLink><relatesTo>2</relatesTo><i> robert.desnick@mssm.edu</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Metabolism%22">Molecular Genetics & Metabolism</searchLink>. Nov2011, Vol. 104 Issue 3, p314-318. 5p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=67079671
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ymgme.2011.05.008
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 5
        StartPage: 314
    Titles:
      – TitleFull: Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” α-galactosidase a large deletion
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Feldt-Rasmussen, Ulla
      – PersonEntity:
          Name:
            NameFull: Dobrovolny, Robert
      – PersonEntity:
          Name:
            NameFull: Nazarenko, Irina
      – PersonEntity:
          Name:
            NameFull: Ballegaard, Martin
      – PersonEntity:
          Name:
            NameFull: Hasholt, Lis
      – PersonEntity:
          Name:
            NameFull: Rasmussen, Åse K.
      – PersonEntity:
          Name:
            NameFull: Christensen, Erik I.
      – PersonEntity:
          Name:
            NameFull: Sorensen, Soren S.
      – PersonEntity:
          Name:
            NameFull: Wibrand, Flemming
      – PersonEntity:
          Name:
            NameFull: Desnick, Robert J.
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 11
              Text: Nov2011
              Type: published
              Y: 2011
          Identifiers:
            – Type: issn-print
              Value: 10967192
          Numbering:
            – Type: volume
              Value: 104
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Molecular Genetics & Metabolism
              Type: main
ResultId 1