Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase d...
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency
About this item
Full title
Author / Creator
Ling, Shiying , Qiu, Wenjuan , Zhang, Huiwen , Liang, Lili , Lu, Deyun , Chen, Ting , Zhan, Xia , Wang, Yu , Gu, Xuefan and Han, Lianshu
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
This study aimed to describe the clinical, biochemical, and molecular characteristics of Chinese patients with holocarboxylase synthetase (HLCS) deficiency, and to investigate the mutation spectrum of HCLS deficiency as well as their potential correlation with phenotype.
A total of 28 patients with HLCS deficiency were enrolled between 2006 and...
Alternative Titles
Full title
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_04e362d98e034408bd2053d08a3eb417
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_04e362d98e034408bd2053d08a3eb417
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-023-02656-y
