Abstract
No translate
No translate
No translate
No translate
Đỗ Doãn Lợi; Trần Ngọc Lan
References
1.
1. Konno T, Chang S, Seidman JG et al. Genetics of hypertrophic cardiomyopathy. Curr Opin Cardiol 2010; 25: 205 - 209.
2.
2. Tuohy CV, Kaul S, Song HK et al. Hypertrophic cardiomyopathy: the future of treatment. Eur J Heart Fail 2020; 22: 228 - 240.
3.
3. Semsarian C, Ingles J, Maron MS et al. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol 2015; 65: 1249 - 1254.
4.
4. Akhtar M, Elliott P. The genetics of hypertrophic cardiomyopathy. Glob Cardiol Sci Pract 2018; 2018: 36.
5.
5. Chen L, Cai Y, Zhou G et al. Rapid Sanger sequencing of the 16S rRNA gene for identification of some common pathogens. PLoS One 2014; 9: e88886.
6.
6. Ochoa JP, Lopes LR, Pérez-Barbeito M et al. Deletions of specific exons of FHOD3 detected by next-generation-sequencing are associated with hypertrophic cardiomyopathy. Clin Genet 2020; doi: 10.1111/cge.13759.
7.
7. Linthorst GE, Hollak CEM. Whole exome sequencing and whole genome sequencing in undiagnosed disease: of value for certain patient populations. Ned Tijdschr Geneeskd 2019; 16: D3711.
8.
8. Sun Y, Man J, Wan Y et al. Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study. Sci Rep 2018; 8: 11646.
9.
9. Barbitoff YA, Polev DE, Glotov AS et al. Systematic dissection of biases in whole-exome and whole- genome sequencing reveals major determinants of coding sequence coverage. Sci Rep 2020; 10: 2057
10.
10. Choi M, Scholl UI, Ji W et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 2009; 106, 19096 - 19101.
11.
11. Ng SB, Turner EH, Robertson PD et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009; 461: 272 - 276.
12.
12. Dasouki M, Jawdat O, Almadhoun O et al. Pompe disease: literature review and case series. Neurol Clin 2014; 32: 751 - 776.
13.
13. Lee DH, Qiu WJ, Lee J et al. Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype. JIMD Rep 2014; 17: 71 - 75.
14.
14. van der Ploeg AT, Reuser AJ. Pompe’s disease. Lancet 2008; 372: 1342 - 1353.
15.
15. Fukuda T, Roberts A, Plotz PH et al. Acid alpha-glucosidase deficiency (Pompe disease). Curr Neurol Neurosci Rep 2007; 7: 71 - 77.
16.
16. Salabarria SM, Nair J, Clement N et al. Advancements in AAV-mediated gene therapy for Pompe disease. J Neuromuscul Dis 2020; 7: 15 - 31.
17.
17. Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8: 267 - 288.
18.
18. Rigden DJ, Jedrzejas MJ, de Mello LV. Identification and analysis of catalytic TIM barrel domains in seven further glycoside hydrolase families. FEBS Lett 2003; 544: 103 - 111.
19.
19. Wan L, Lee CC, Hsu CM et al. Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. J Neurol 2008; 255: 831 - 838.
20.
20. Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T et al. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand. BMC Med Genet 2019; 20: 156.
21.
21. Ansong AK, Li JS, Nozik-Grayck E et al. Electrocardiographic response to enzyme replacement therapy for Pompe disease. Genet Med 2006; 8: 297 - 301.
Files
Article Views356
Document Views0
Downloads17
Section
NGHIÊN CỨU LÂM SÀNG
Issue
Số 91+92, 2021
Category
BỆNH CƠ TIM
Pages
76-84
Copyright Holder
2020 Tạp chí Tim mạch học Việt Nam