Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.

Saved in:
Bibliographic Details
Title: Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.
Authors: Zhang, Kaichuang1 (AUTHOR), Lu, Deyun2 (AUTHOR), Liang, Lili1 (AUTHOR), Yang, Yi1 (AUTHOR), Wang, Ruifang1 (AUTHOR), Sun, Yuning1 (AUTHOR), Gong, Zhuwen1 (AUTHOR), Zhi, Haijuan1 (AUTHOR), Qiu, Wenjuan1 (AUTHOR) qiuwenjuan@xinhuamed.com.cn, Han, Lianshu1 (AUTHOR) hanlianshu@xinhuamed.com.cn
Source: Orphanet Journal of Rare Diseases. 10/9/2025, Vol. 20 Issue 1, p1-9. 9p.
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: 188547514
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Zhang%2C+Kaichuang%22">Zhang, Kaichuang</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lu%2C+Deyun%22">Lu, Deyun</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Liang%2C+Lili%22">Liang, Lili</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yang%2C+Yi%22">Yang, Yi</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wang%2C+Ruifang%22">Wang, Ruifang</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sun%2C+Yuning%22">Sun, Yuning</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gong%2C+Zhuwen%22">Gong, Zhuwen</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhi%2C+Haijuan%22">Zhi, Haijuan</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Qiu%2C+Wenjuan%22">Qiu, Wenjuan</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> qiuwenjuan@xinhuamed.com.cn</i><br /><searchLink fieldCode="AR" term="%22Han%2C+Lianshu%22">Han, Lianshu</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> hanlianshu@xinhuamed.com.cn</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 10/9/2025, Vol. 20 Issue 1, p1-9. 9p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=188547514
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-025-04026-2
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 9
        StartPage: 1
    Titles:
      – TitleFull: Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Zhang, Kaichuang
      – PersonEntity:
          Name:
            NameFull: Lu, Deyun
      – PersonEntity:
          Name:
            NameFull: Liang, Lili
      – PersonEntity:
          Name:
            NameFull: Yang, Yi
      – PersonEntity:
          Name:
            NameFull: Wang, Ruifang
      – PersonEntity:
          Name:
            NameFull: Sun, Yuning
      – PersonEntity:
          Name:
            NameFull: Gong, Zhuwen
      – PersonEntity:
          Name:
            NameFull: Zhi, Haijuan
      – PersonEntity:
          Name:
            NameFull: Qiu, Wenjuan
      – PersonEntity:
          Name:
            NameFull: Han, Lianshu
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 09
              M: 10
              Text: 10/9/2025
              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