| 1. |
Martin KR, Zhou W, Bowman MJ, et al. The genomic landscape of tuberous sclerosis complex. Nat Commun, 2017, 8(1): 15816.
|
| 2. |
von Ranke FM, Zanetti G, e Silva JLP, et al. Tuberous sclerosis complex: state-of-the-art review with a focus on pulmonary involvement. Lung, 2015, 193(5): 619-627.
|
| 3. |
Randle SC. Tuberous sclerosis complex: a review. Pediatr Ann, 2017, 46(4): e166-e171.
|
| 4. |
梅道啟, 符娜, 秦炯. 結節性硬化癥 TSC1 TSC2 基因型與臨床表型研究進展. 中國實用兒科雜志, 2019, 34(4): 309-314.
|
| 5. |
中華醫學會呼吸病學分會間質性肺疾病學組淋巴管肌瘤病共識專家組, 中國醫學科學院罕見病研究中心, 中國研究型醫院學會罕見病分會. 西羅莫司治療淋巴管肌瘤病專家共識 (2018). 中華結核和呼吸雜志, 2019, 42(2): 92-97.
|
| 6. |
Tanaka M, Hirata H, Wataya-Kaneda M, et al. Lymphangioleiomyomatosis and multifocal micronodular pneumocyte hyperplasia in Japanese patients with tuberous sclerosis complex. Respir Investig, 2016, 54(1): 8-13.
|
| 7. |
Pannu BS, Apala DR, Kotecha A, et al. Multifocal micronodular pneumocyte hyperplasia (MMPH) in a patient with tuberous sclerosis-evidence for long term stability. Respir Med Case Rep, 2017, 20: 113-115.
|
| 8. |
Jain VV, Gupta OP, Jajoo S, et al. Recurrent pneumothorax in a young female with pulmonary lymphangiomyomatosis: a case report and overview of literature. J Family Med Prim Care, 2014, 3(1): 86-88.
|
| 9. |
Bang TJ, Suby-Long TD, Vargas D. Imaging cystic lung disease. Curr Pulmonol Rep, 2019, 8(3): 69-77.
|
| 10. |
Konno S, Shigemura M, Ogi T, et al. Clinical course of histologically proven multifocal micronodular pneumocyte hyperplasia in tuberous sclerosis complex: a case series and comparison with lymphangiomyomatosis. Respiration, 2018, 95(5): 310-316.
|
| 11. |
Kingswood C, Bolton P, Crawford P, et al. The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: a retrospective cohort study in the Clinical Practice Research Datalink (CPRD). Eur J Paediatr Neurol, 2016, 20(2): 296-308.
|
| 12. |
Volpi A, Sala G, Lesma E, et al. Tuberous sclerosis complex: new insights into clinical and therapeutic approach. J Nephrol, 2019, 32(3): 355-363.
|
| 13. |
Singla A, Gupta N, Apewokin S, et al. Sirolimus for the treatment of lymphangioleiomyomatosis. Expert Opin Orphan Drugs, 2017, 5(11): 907-921.
|
| 14. |
Amin S, Lux A, Calder N, et al. Causes of mortality in individuals with tuberous sclerosis complex. Dev Med Child Neurol, 2016, 59(6): 612-617.
|
| 15. |
Northrup H, Krueger DA. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol, 2013, 49(4): 243-254.
|
| 16. |
Fahmy MD, Gupta A, Padilla RJ, et al. Desmoplastic fibroma associated with tuberous sclerosis: case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 2019, 128(2): 92-99.
|
| 17. |
Castagnetti M, Vezzù B, Laverda A, et al. Urological counseling and followup in pediatric tuberous sclerosis complex. J Urol, 2007, 178(5): 2155-2159.
|
| 18. |
Franz DN, Belousova E, Sparagana S, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet, 2013, 381(9861): 125-132.
|
| 19. |
Ni JX, Yan FQ, Qin WJ, et al. Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy. Sci Rep, 2019, 9(1): 14337.
|
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