HuGE Literature Finder
Records 1-4
[Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 Feb 35 (1): 39-42. Lin Yiming, Han Mingya, Zheng Zhenzhu, Lin Weihua, Yu Ke, Fu Qingl |
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Molecular genetics and metabolism 2016 Jul . Schillaci Lori-Anne P, Greene Carol L, Strovel Erin, Rispoli-Joines Jessica, Spector Elaine, Woontner Michael, Scharer Gunter, Enns Gregory M, Gallagher Renata, Zinn Arthur B, McCandless Shawn E, Hoppel Charles L, Goodman Stephen I, Bedoyan Jirair |
Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.
Neurogenetics 2015 Oct 16 (4): 325-8. Pierson T M, Nezhad Mani, Tremblay Matthew A, Lewis Richard, Wong Derek, Salamon Noriko, Sicotte Nan |
Somatic mutations of amino acid metabolism-related genes in gastric and colorectal cancers and their regional heterogeneity--a short report.
Cellular oncology (Dordrecht) 2014 Dec 37 (6): 455-61. Oh Hye Rim, An Chang Hyeok, Yoo Nam Jin, Lee Sug Hyu |
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- Page last updated:Jan 19, 2021
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