C4OH is a potential newborn screening marker—a multicenter retrospective study of patients with beta-ketothiolase deficiency in China

BACKGROUND: Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disorder caused by biallelic mutation of ACAT1 that affects both isoleucine catabolism and ketolysis. There is little information available regarding the incidence, newborn screening (NBS), and mutational spectrum of BKTD in C...

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Detalles Bibliográficos
Autores principales: Lin, Yiming, Yang, Zhantao, Yang, Chiju, Hu, Haili, He, Haiyan, Niu, Tingting, Liu, Mingfang, Wang, Dongjuan, Sun, Yun, Shen, Yuyan, Li, Xiaole, Yan, Huiming, Kong, Yuanyuan, Huang, Xinwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8130433/
https://www.ncbi.nlm.nih.gov/pubmed/34001203
http://dx.doi.org/10.1186/s13023-021-01859-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8130433/
https://www.ncbi.nlm.nih.gov/pubmed/34001203
http://dx.doi.org/10.1186/s13023-021-01859-5

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