Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 11 (of 11 Records) |
| Query Trace: Maple Syrup Urine Disease[original query] |
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| Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. American journal of human genetics 2001 Oct 69 (4): 863-8. Edelmann L, Wasserstein M P, Kornreich R, Sansaricq C, Snyderman S E, Diaz G |
| Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clinical chemistry 2001 Nov 47 (11): 1945-55. Zytkovicz T H, Fitzgerald E F, Marsden D, Larson C A, Shih V E, Johnson D M, Strauss A W, Comeau A M, Eaton R B, Grady G |
| DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities. Genetic testing and molecular biomarkers 2010 Apr 14 (2): 205-8. Carleton Stephanie M, Peck Dawn S, Grasela Julie, Dietiker Kristin L, Phillips Charlotte |
| Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease. Metabolic brain disease 2018 1 33 (3): 741-751. Li Xiaomei, Yang Yali, Gao Qing, Gao Min, Lv Yvqiang, Dong Rui, Liu Yi, Zhang Kaihui, Gai Zhongt |
| Prenatal Diagnosis of Organic Acidemias at a Tertiary Center. Balkan journal of medical genetics : BJMG 2019 9 22 (1): 29-34. Tanacan A, Gurbuz B B, Aydin E, Erden M, Coskun T, Beksac M |
| Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients. Medicine 2020 5 99 (18): e19964. Xiong Zihong, Zhang Guoying, Luo Xiaoli, Zhang Ning, Zheng Ji |
| Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity. Orphanet journal of rare diseases 2020 11 15 (1): 309. Margutti Ana Vitoria Barban, Silva Wilson Araújo, Garcia Daniel Fantozzi, de Molfetta Greice Andreotti, Marques Adriana Aparecida, Amorim Tatiana, Prazeres Vânia Mesquita Gadelha, Boy da Silva Raquel Tavares, Miura Irene Kazue, Seda Neto João, Santos Emerson de Santana, Santos Mara Lúcia Schmitz Ferreira, Lourenço Charles Marques, Tonon Tássia, Sperb-Ludwig Fernanda, de Souza Carolina Fischinger Moura, Schwartz Ida Vanessa Döederlein, Camelo José Sim |
| Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population. Scientific reports 2021 9 11 (1): 18939. Fang Xiaohua, Zhu Xiaofan, Feng Yin, Bai Ying, Zhao Xuechao, Liu Ning, Kong Xiangdo |
| [Genetic analysis of two Chinese families with maple syrup urine disease]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 7 39 (7): 689-693. Zhang Chuan, Feng Xuan, Yao Liguo, Hao Shengju, Hui Ling, Chen Xue, Zheng Lei, Wang Xing, Zhang Qinghua, Cao Zong |
| Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier. Laboratory medicine 2022 6 53 (6): 596-601. Alijanpour Morteza, Jazayeri Omid, Soleimani Amiri Shima, Brosens Erw |
| Genotypic and Phenotypic Spectrum of maple syrup urine disease in Zhejiang of China. QJM : monthly journal of the Association of Physicians 2024 6 . Xin Yang, Rulai Yang, Ting Zhang, Danny Junyi Tan, Rongrong Pan, Zipei Chen, Dingwen Wu, Chi Chen, Yanhua Xu, Li Zhang, Xiang Li, Qiang Shu, Lidan |
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