Late-onset cblC defect: clinical, biochemical and molecular analysis

BACKGROUND: cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical characteristics and evaluate long-term outcomes of Chinese patients with late-ons...

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Detalles Bibliográficos
Autores principales: Ding, Si, Ling, Shiying, Liang, Lili, Qiu, Wenjuan, Zhang, Huiwen, Chen, Ting, Zhan, Xia, Xu, Feng, 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/PMC10536707/
https://www.ncbi.nlm.nih.gov/pubmed/37770946
http://dx.doi.org/10.1186/s13023-023-02890-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10536707/
https://www.ncbi.nlm.nih.gov/pubmed/37770946
http://dx.doi.org/10.1186/s13023-023-02890-4

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