| 1. |
Rokaitė R, Traberg R, Dženkaitis M, et al. Two Lithuanian cases of classical galactosemia with a literature review: a novel GALT gene mutation identified. Medicina (Kaunas), 2020, 56(11): 559.
|
| 2. |
Timson DJ. The molecular basis of galactosemia-past, present and future. Gene, 2016, 589(2): 133-141.
|
| 3. |
Coelho AI, Rubio‐Gozalbo ME, Vicente JB, et al. Sweet and sour: an update on classic galactosemia. J Inherit Metab Dis, 2017, 40(3): 325-342.
|
| 4. |
Demirbas D, Coelho AI, Rubio-Gozalbo ME, et al. Hereditary galactosemia. Metabolism, 2018, 83: 188-196.
|
| 5. |
Welling L, Bernstein LE, Berry GT, et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis, 2017, 40(2): 171-176.
|
| 6. |
Kotb MA, Mansour L, William Shaker Basanti C, et al. Pilot study of classic galactosemia: neurodevelopmental impact and other complications urge neonatal screening in Egypt. J Adv Res, 2018, 12: 39-45.
|
| 7. |
刘攀, 陆怡, 谢新宝, 等. 经典型半乳糖血症4例. 中国肝脏病杂志, 2020, 28(1): 77-79.
|
| 8. |
Özgün N, Celik M, Akdeniz O, et al. Early neurological complications in children with classical galactosemia and p.gln188arg mutation. Int J Dev Neurosci, 2019, 78: 92-97.
|
| 9. |
杨茹莱, 童凡, 洪芳, 等. 新生儿半乳糖血症筛查及基因谱分析. 中华儿科杂志, 2017, 55(2): 104-108.
|
| 10. |
Rubio-Gozalbo ME, Haskovic M, Bosch AM, et al. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis, 2019, 14(1): 86.
|
