Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency

Abstract Background 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. Methods...

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Bibliografiske detaljer

Principais autores:	Shiying Ling, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Ting Chen, Xia Zhan, Yu Wang, Xuefan Gu, Lianshu Han
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2023-03-01
Serier:	Orphanet Journal of Rare Diseases
Fag:	Holocarboxylase synthetase deficiency HLCS Newborn screening Tandem mass spectrometry
Online adgang:	https://doi.org/10.1186/s13023-023-02656-y
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