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

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: A total...

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Detalles Bibliográficos
Autores principales:	Ling, Shiying, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Lu, Deyun, Chen, Ting, Zhan, Xia, Wang, Yu, Gu, Xuefan, Han, Lianshu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9997024/ https://www.ncbi.nlm.nih.gov/pubmed/36890565 http://dx.doi.org/10.1186/s13023-023-02656-y

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