1-13C-Propionate Oxidation as a Measure of Methylmalonyl-CoA Mutase (MUT) Activity in Methylmalonic Acidemia

被引：0

|

作者：

Gagne, Jack ^{[1
]}

Manoli, Irini ^{[1
]}

Harrington, Elizabeth ^{[1
]}

Smyth, Sarah ^{[2
]}

Hattenbach, Jacob D. ^{[2
]}

Sloan, Jennifer L. ^{[1
]}

Chen, Kong Y. ^{[2
]}

Venditti, Charles P. ^{[1
]}

机构：

[1] NHGRI, Med Genom & Metab Genet Branch, Bethesda, MD 20892 USA

[2] NIDDK, Clin Endocrinol Branch, Bethesda, MD 20892 USA

来源：

MOLECULAR THERAPY | 2016年 / 24卷

关键词：

D O I：

10.1016/S1525-0016(16)33162-8

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

353

引用

收藏

页码：S141 / S141

页数：1

相关论文

共 32 条

[31] NON-OXIDATIVE GENERATION OF (CO2)-C-13 FROM 1-C-13-PROPIONATE IN METHYLMALONIC ACIDEMIA
BARSHOP, BA
YOSHIDA, I
SWEETMAN, L
NYHAN, WL
CLINICAL RESEARCH, 1990, 38 (01): : A177 - A177
[32] 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA) (Apr, 10.1038/s41436-021-01143-8, 2021)
Manoli, Irini
Pass, Alexandra R.
Harrington, Elizabeth A.
Sloan, Jennifer L.
Gagne, Jack
McCoy, Samantha
Bell, Sarah L.
Hattenbach, Jacob D.
Leitner, Brooks P.
Duckworth, Courtney J.
Fletcher, Laura A.
Cassimatis, Thomas M.
Galarreta, Carolina I.
Thurm, Audrey
Snow, Joseph
Van Ryzin, Carol
Ferry, Susan
Mew, Nicholas Ah
Shchelochkov, Oleg A.
Chen, Kong Y.
Venditti, Charles P.
GENETICS IN MEDICINE, 2021, 23 (11) : 2233 - 2233

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