Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 8 (of 8 Records) |
Query Trace: Propionic Acidemia[original query] |
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[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Feb 32 (1): 26-30. Chen Zhanling, Wen Pengqiang, Wang Guobing, Hu Yuhui, Liu Xiaohong, Chen Li, Chen Shuli, Wan Lisheng, Cui Dong, Shang Yue, Li Chengro |
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. Genetic testing and molecular biomarkers 2016 May . Gupta Deepti, Bijarnia-Mahay Sunita, Kohli Sudha, Saxena Renu, Puri Ratna Dua, Shigematsu Yosuke, Yamaguchi Seiji, Sakamoto Osamu, Gupta Neerja, Kabra Madhulika, Thakur Seema, Deb Roumi, Verma Ishwar Chand |
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients. Journal of child neurology 2018 7 33 (11): 713-717. AlGhamdi Afnan, Alrifai Muhammad Talal, Al Hammad Abdullah I, Al Mutairi Fuad, Alswaid Abdulrahman, Eyaid Wafaa, Alfadhel Maj |
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia. Molecular genetics and metabolism reports 2019 2 18 22-29. Al-Hamed Mohamed H, Imtiaz Faiqa, Al-Hassnan Zuhair, Al-Owain Mohammed, Al-Zaidan Hamad, Alamoudi Mohamed S, Faqeih Eissa, Alfadhel Majid, Al-Asmari Ali, Saleh M M, Almutairi Fuad, Moghrabi Nabil, AlSayed Moeenalde |
Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian. Medicine 2021 3 100 (10): e24161. Chen Yao, Lin Xuehua, Lin Qingying, Zeng Yinglin, Qiu Xiaolong, Liu Guanghua, Zhu Wenb |
[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 7 39 (7): 694-697. Zhao Ganye, Chen Chen, Zhao Xuechao, Liu Lina, Wang Conghui, Kong Xiangdo |
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital. Orphanet journal of rare diseases 2022 3 17 (1): 135. Liu Yi, Chen Zhehui, Dong Hui, Ding Yuan, He Ruxuan, Kang Lulu, Li Dongxiao, Shen Ming, Jin Ying, Zhang Yao, Song Jinqing, Tian Yaping, Cao Yongtong, Liang Desheng, Yang Yanli |
Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations. Saudi journal of biological sciences 2022 10 29 (12): 103461. Al-Asmari Ali, Peer-Zada Abdul Ali, AlDehaimi Abdulwahed, Polychronakos Constantin, Chentoufi Aziz |
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