Literature DB >> 24635911

A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.

J W Yun1, K I Jo, H I Woo, S-Y Lee, C-S Ki, J-W Kim, J Song, D H Lee, Y-W Lee, H-D Park.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 24635911     DOI： 10.1111/cge.12350

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  5 in total

1.  Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.

Authors:  Albina Tummolo; Piero Leone; Maria Tolomeo; Rita Solito; Matteo Mattiuzzo; Francesca Romana Lepri; Tania Lorè; Roberta Cardinali; Donatella De Giovanni; Simonetta Simonetti; Maria Barile
Journal:  JIMD Rep       Date:  2022-05-07

2.  Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia.

Authors:  S Santra; A Macdonald; M A Preece; R K Olsen; B S Andresen
Journal:  Mol Genet Metab Rep       Date:  2016-12-22

3.  Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Authors:  Ting Wang; Jun Ma; Qin Zhang; Ang Gao; Qi Wang; Hong Li; Jingjing Xiang; Benjing Wang
Journal:  Front Genet       Date:  2019-10-29       Impact factor: 4.599

4.  Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing.

Authors:  Dan-Yan Zhuang; Shu-Xia Ding; Fei Wang; Xiang-Chun Yang; Xiao-Li Pan; You-Wei Bao; Li-Ming Zhou; Hai-Bo Li
Journal:  Front Genet       Date:  2022-01-28       Impact factor: 4.599

5.  Identification of lysine isobutyrylation as a new histone modification mark.

Authors:  Zhesi Zhu; Zhen Han; Levon Halabelian; Xiangkun Yang; Jun Ding; Nawei Zhang; Liza Ngo; Jiabao Song; Hong Zeng; Maomao He; Yingming Zhao; Cheryl H Arrowsmith; Minkui Luo; Michael G Bartlett; Y George Zheng
Journal:  Nucleic Acids Res       Date:  2021-01-11       Impact factor: 19.160
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.