View in EDS HTML Full Text PDF Full Text

Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.

Saved in:
Bibliographic Details
Title: Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.
Authors: Ferren, Edwin1 (AUTHOR) Edwin.Ferren@atriumhealth.org, Hillman, Paul R.2 (AUTHOR), Kritzer, Amy3 (AUTHOR), Ray, Joseph4 (AUTHOR), Serrano, Alvaro5 (AUTHOR), Northrup, Hope2 (AUTHOR), Roberts, Paige2 (AUTHOR), Dutta, Rana6 (AUTHOR), Pramparo, Tiziano6 (AUTHOR), Vig, Pamela6 (AUTHOR), Steiner, Robert D.7 (AUTHOR)
Source: Orphanet Journal of Rare Diseases. 7/28/2025, Vol. 20 Issue 1, p1-15. 15p.
Database: Academic Search Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 186951833
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Ferren%2C+Edwin%22">Ferren, Edwin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Edwin.Ferren@atriumhealth.org</i><br /><searchLink fieldCode="AR" term="%22Hillman%2C+Paul+R%2E%22">Hillman, Paul R.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kritzer%2C+Amy%22">Kritzer, Amy</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ray%2C+Joseph%22">Ray, Joseph</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Serrano%2C+Alvaro%22">Serrano, Alvaro</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Northrup%2C+Hope%22">Northrup, Hope</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Roberts%2C+Paige%22">Roberts, Paige</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dutta%2C+Rana%22">Dutta, Rana</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Pramparo%2C+Tiziano%22">Pramparo, Tiziano</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vig%2C+Pamela%22">Vig, Pamela</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Steiner%2C+Robert+D%2E%22">Steiner, Robert D.</searchLink><relatesTo>7</relatesTo> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 7/28/2025, Vol. 20 Issue 1, p1-15. 15p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=186951833
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-025-03914-x
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 15
        StartPage: 1
    Titles:
      – TitleFull: Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Ferren, Edwin
      – PersonEntity:
          Name:
            NameFull: Hillman, Paul R.
      – PersonEntity:
          Name:
            NameFull: Kritzer, Amy
      – PersonEntity:
          Name:
            NameFull: Ray, Joseph
      – PersonEntity:
          Name:
            NameFull: Serrano, Alvaro
      – PersonEntity:
          Name:
            NameFull: Northrup, Hope
      – PersonEntity:
          Name:
            NameFull: Roberts, Paige
      – PersonEntity:
          Name:
            NameFull: Dutta, Rana
      – PersonEntity:
          Name:
            NameFull: Pramparo, Tiziano
      – PersonEntity:
          Name:
            NameFull: Vig, Pamela
      – PersonEntity:
          Name:
            NameFull: Steiner, Robert D.
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 28
              M: 07
              Text: 7/28/2025
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 17501172
          Numbering:
            – Type: volume
              Value: 20
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Orphanet Journal of Rare Diseases
              Type: main
ResultId 1