Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

BACKGROUND: Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. CASE PRESENTATION: In this paper, we report a Chinese Han pedigree wit...

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Detalles Bibliográficos
Autores principales: Zheng, Zhenzhu, Yuan, Gaopin, Zheng, Minyan, Lin, Yiming, Zheng, Faming, Jiang, Mengyi, Zhu, Lin, Fu, Qingliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7388215/
https://www.ncbi.nlm.nih.gov/pubmed/32727382
http://dx.doi.org/10.1186/s12881-020-01080-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7388215/
https://www.ncbi.nlm.nih.gov/pubmed/32727382
http://dx.doi.org/10.1186/s12881-020-01080-4

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