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MeSH:(Methylmalonyl-CoA Mutase)

1.A Case of Methylmalonic Acidemia.

Seong Hoi JEON ; Hae Won CHEON ; Kee Hwan YOO ; Young Sook HONG ; Joo Won LEE ; Shi Hun HAHN

Journal of the Korean Society of Neonatology 1998;5(1):61-66

2.Engineering the precursor supply pathway in Streptomyces gilvosporeus for overproduction of natamycin.

Dezhen KONG ; Hao LI ; Xiaojie LI ; Zhoujie XIE ; Hao LIU

Chinese Journal of Biotechnology 2022;38(12):4630-4643

3.Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia.

Young A KIM ; Ji Yong KIM ; Yoo Mi KIM ; Chong Kun CHEON

Journal of Genetic Medicine 2017;14(2):80-85

4.Analysis of the MUT gene mutations in patients with methylmalonic acidemia.

Fei WANG ; Lianshu HAN ; Jun YE ; Wenjuan QIU ; Yafen ZHANG ; Xiaolan GAO ; Yu WANG ; Yanling YANG ; Xuefan GU

Chinese Journal of Medical Genetics 2009;26(5):485-489

5.Analysis of MUT gene mutations in a patient with isolated methylmalonic acidemia.

Zhanling CHEN ; Xiuwei ZHANG ; Jianrong HUANG ; Pengqiang WEN ; Guobing WANG ; Gen TANG ; Ying ZU ; Xiaowen CHEN ; Dong CUI ; Min ZHANG ; Zhongxiang QI ; Chengrong LI

Chinese Journal of Medical Genetics 2015;32(2):218-221

6.Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect.

Yu-Peng LIU ; Yuan DING ; Xi-Yuan LI ; Hai-Jun WANG ; Jin-Qing SONG ; Jin-Tang YE ; Tong-Fei WU ; Yan-Ling YANG

Chinese Journal of Contemporary Pediatrics 2015;17(10):1103-1106

7.Quantitation of Methylmalonic Acid by Isotope Dilution Gas Chromatography Mass Spectrometry.

Jeong Uk KIM ; Jong Won KIM

Korean Journal of Clinical Pathology 1997;17(6):1022-1028

8.Diagnosis and treatment of isolated methylmalonic acidemia.

Lian-shu HAN ; Sheng-nan WU ; Jun YE ; Wen-juan QIU ; Hui-wen ZHANG ; Xiao-lan GAO ; Yu WANG ; Xiao-yan LI ; Hao XU ; Xue-fan GU

Chinese Journal of Medical Genetics 2013;30(5):589-593

9.Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia.

Bobo XIE ; Jingsi LUO ; Xin FAN ; Rongyu CHEN ; Jin WANG ; Shujie ZHANG ; Wang LI ; Shaoke CHEN

Chinese Journal of Medical Genetics 2016;33(2):135-139

10.Mutation screening and prenatal diagnosis of methylmalonic academia in a Chinese pedigree by Ion Torrent semiconductor sequencing.

Li LI ; Dingyuan MA ; Yun SUN ; Jingjing ZHANG ; Yuguo WANG ; Tao JIANG ; Zhengfeng XU

Chinese Journal of Medical Genetics 2016;33(2):181-185

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