Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: GCDH[original query] |
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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 |
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 |
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 |
Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation. Journal of cellular biochemistry 2018 9 120 (3): 3367-3372. Shadmehri Azam Ahmadi, Fattahi Najmeh, Pourreza Mohammad Reza, Koohiyan Mahboobeh, Zarifi Shahnaz, Darbouy Mojtaba, Sharifi Reza, Tavakkoly Bazzaz Javad, Tabatabaiefar Mohammad Am |
[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 |
Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report. International journal of legal medicine 2020 6 134 (5): 1639-1645. Heathfield Laura Jane, Bhengu Wenelisile, Louw Susan, Martin Lorna Jean, Ramesar R |
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene. Metabolic brain disease 2020 4 35 (6): 1009-1016. Kurkina Marina V, Mihaylova Svetlana V, Baydakova Galina V, Saifullina Elena V, Korostelev Sergey A, Pyankov Denis V, Kanivets Ilya V, Yunin Maksim A, Pechatnikova Natalya L, Zakharova Ekaterina |
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population. Frontiers in genetics 2021 8 12 631688. Tan Jianqiang, Chen Dayu, Chang Rongni, Pan Lizhen, Yang Jinling, Yuan Dejian, Huang Lihua, Yan Tizhen, Ning Haiping, Wei Jiangyan, Cai R |
Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China. Frontiers in genetics 2021 7 12 702374. E Huishu, Liang Lili, Zhang Huiwen, Qiu Wenjuan, Ye Jun, Xu Feng, Gong Zhuwen, Gu Xuefan, Han Lians |
Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022 6 39 49-58. Paria Pradip, Saini Arushi Gahlot, Attri Savita, Kaur Rajdeep, Malhi Prahbhjot, Didwal Gunjan, Kasinathan Ananthanarayanan, Bhatia Prateek, Sahu Jitendra Kumar, Suthar Renu, Saini Lokesh, Vyas Sameer, Panigrahi Inusha, Sankhyan Nave |
Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China. Clinica chimica acta; international journal of clinical chemistry 2022 4 530 113-118. Lin Yiming, Zhu Xiaochun, Zhang Chao, Yin Xiaoshan, Miao Haixia, Hu Zhenzhen, Yang Jianbin, Wu Benqing, Huang Xinw |
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