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

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

Abstract 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...

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Bibliographic Details
Main Authors: Si Ding, Shiying Ling, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Ting Chen, Xia Zhan, Feng Xu, Xuefan Gu, Lianshu Han
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
cblC defect
Late-onset
Methylmalonic acidemia and homocystinuria
Neuropsychiatric symptoms
Prognosis
Online Access:https://doi.org/10.1186/s13023-023-02890-4

Internet

https://doi.org/10.1186/s13023-023-02890-4

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