Human Genome Epidemiology Literature Finder
|
Records 1 - 8 (of 8 Records) |
| Query Trace: Disease and ALDOB[original query] |
|---|
| Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. Journal of inherited metabolic disease 2009 Dec . Coffee EM, Yerkes L, Ewen EP, Zee T, Tolan DR |
| Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. JIMD reports 2015 1 19 85-93. Bijarnia-Mahay Sunita, Movva Sireesha, Gupta Neerja, Sharma Deepak, Puri Ratna D, Kotecha Udhaya, Saxena Renu, Kabra Madhulika, Mohan Neelam, Verma Ishwar |
| Estimation of hereditary fructose intolerance prevalence in the Chinese population. Orphanet journal of rare diseases 2022 8 17 (1): 326. Tang Meiling, Chen Xiang, Ni Qi, Lu Yulan, Wu Bingbing, Wang Huijun, Yin Zhaoqing, Zhou Wenhao, Dong Xinr |
| Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series. Liver international : official journal of the International Association for the Study of the Liver 2022 2 42 (4): 864-870. Pelusi Serena, Ronzoni Luisa, Malvestiti Francesco, Bianco Cristiana, Marini Ilaria, D'Ambrosio Roberta, Giannotta Juri Alessandro, Soardo Giorgio, Maggioni Marco, Prati Daniele, Valenti Lu |
| Associations between ALDOB polymorphisms and intrahepatic cholestasis of pregnancy susceptibility in the Chinese Han population. Ginekologia polska 2023 9 . Xianxian Liu, Siming Xin, Jiusheng Zheng, Huai Liu, Yang Zeng, Xiaoying Wu, Feng Zhang, Xiaoming Zeng, Yang Zou, Hua L |
| Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study. JHEP reports : innovation in hepatology 2023 3 5 (4): 100692. Zheng Melanie, Huang Daniel Q, Konkwo Chigoziri, Agrawal Saaket, Khera Amit V, Loomba Rohit, Vilarinho Sílvia, Ajmera Veer |
| Genetic Variants in Carbohydrate Digestive Enzyme and Transport Genes Associated with Risk of Irritable Bowel Syndrome. medRxiv : the preprint server for health sciences 2023 10 . Hyejeong Hong, Katharina V Schulze, Ian E Copeland, Manasa Atyam, Kendra Kamp, Neil A Hanchard, John Belmont, Tamar Ringel-Kulka, Margaret Heitkemper, Robert J Shulm |
| Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance. Journal of pediatric endocrinology & metabolism : JPEM 2023 1 36 (3): 331-334. Beyzaei Zahra, Ezgu Fatih, Imanieh Mohammad Hadi, Haghighat Mahmoud, Dehghani Seyed Mohsen, Honar Naser, Geramizadeh Bi |
- Page last reviewed:Feb 1, 2024
- Content source: