Molecular pathology report of late ⁃ onset propionic acidemia in adults: one case report and literature review

Molecular pathology report of late ⁃ onset propionic acidemia in adults: one case report and literature review

Objective To report the first case of adult late⁃onset propionic acidemia (PA) caused by PCCB gene mutation in China, and summary the clinical and molecular pathological characteristics of patients with late⁃onset propionic acidemia. Methods and Results The clinical manisfestions of an eighteen⁃year...

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Bibliographic Details
Main Authors: XUE Xiu⁃yun, DONG Ya⁃ru, WANG Jun, YOU Feng⁃qiu, DI Zheng⁃li, LIU Zhi⁃qin
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2021-04-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
propionic acidemia
genes
mutation
mass spectrometry
pathology molecular
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/2311

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