Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Disease and GALT[original query] |
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| Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience. Journal of medical screening 2001 8 (3): 132-6. Zekanowski C, Nowacka M, Radomyska B, Cabalska |
| No association of endometriosis with galactose-1-phosphate uridyl transferase mutations in a Chinese population. Environmental and molecular mutagenesis 2006 May 47 (4): 307-9. He Chunni, Song Yanfeng, He Xiaoyu, Zhang Wenju, Liao Lianmi |
| Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations. The National medical journal of India 0 30 (2): 73-75. Nema Nitin, Kumar Ravindra, Verma Abha, Verma Sonam, Chaturvedi Kir |
| Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease. Molecular genetics and metabolism reports 2017 6 2 61-64. Cocanougher Benjamin, Aypar Umut, McDonald Amber, Hasadsri Linda, Bennett Michael J, Edward Highsmith W, D'Aco Krist |
| Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants. Journal of inherited metabolic disease 2019 Jun . Ohlsson Annika, Hunt Mary, Wedell Anna, von Döbeln Ulri |
| Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study. Annals of human genetics 2019 Apr . Papachristoforou Rena, Petrou Petros P, Sawyer Hilary, Williams Maggie, Drousiotou Ant |
| Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing. BMC medical genomics 2024 4 17 (1): 98. Anett Illés, Henriett Pikó, Kristóf Árvai, Veronika Donka, Olívia Szepesi, János Kósa, Péter Lakatos, Artúr Be |
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