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1
Diagnosis of tuberous sclerosis.结节性硬化症的诊断。
Arch Dis Child. 1988 Dec;63(12):1423-5. doi: 10.1136/adc.63.12.1423.
2
[Bourneville's tuberous sclerosis].[布尔内维尔结节性硬化症]
J Fr Ophtalmol. 1993;16(1):51-5.
3
[Eye findings in tuberous sclerosis (Bourneville-Pringle disease)].
Z Arztl Fortbild (Jena). 1970 Jun 1;64(11):567-74.
4
The diverse clinical manifestations of tuberous sclerosis complex: a review.结节性硬化症复杂多样的临床表现:综述
Semin Pediatr Neurol. 2006 Mar;13(1):27-36. doi: 10.1016/j.spen.2006.01.008.
5
Diagnosis of tuberous sclerosis complex.结节性硬化症复合体的诊断。
J Child Neurol. 2004 Sep;19(9):643-9. doi: 10.1177/08830738040190090301.
6
Diagnostic value of clinical features and supplementary investigations in tuberous sclerosis in children.儿童结节性硬化症临床特征及辅助检查的诊断价值
Acta Paediatr Hung. 1992;32(1):71-88.
7
[Tuberous sclerosis--with an analysis of 8 cases (author's transl)].结节性硬化症——附8例分析(作者译)
Zhonghua Nei Ke Za Zhi. 1981 Sep;20(9):540-3.
8
The tuberous sclerosis complex and its highly variable manifestations.结节性硬化症复合体及其高度可变的表现。
J Urol. 2003 May;169(5):1635-42. doi: 10.1097/01.ju.0000058253.40352.60.
9
Ophthalmic manifestations of tuberous sclerosis: a review.结节性硬化症的眼部表现:综述
Clin Exp Ophthalmol. 2017 Jan;45(1):81-86. doi: 10.1111/ceo.12806. Epub 2016 Sep 15.
10
[A case of tuberous sclerosis].[一例结节性硬化症病例]
G Ital Dermatol Venereol. 1987 May;122(5):233-8.

引用本文的文献

1
Focal Status and Sub-Ependymal Tumor as Features of the First Presentation in a Child With Tuberous Sclerosis.局灶性病变和室管膜下肿瘤作为结节性硬化症患儿首次就诊时的特征。
Cureus. 2020 Dec 1;12(12):e11816. doi: 10.7759/cureus.11816.
2
Retinal astrocytic hamartoma in tuberous sclerosis complex in an elderly person: a case report.老年结节性硬化症患者的视网膜星形细胞错构瘤:一例报告
BMC Ophthalmol. 2018 Dec 12;18(1):319. doi: 10.1186/s12886-018-0991-z.
3
Adenoma sebaceum: Dermatological finding unmasking central nervous system pathology.皮脂腺瘤:揭示中枢神经系统病变的皮肤学表现。
J Pediatr Neurosci. 2016 Oct-Dec;11(4):378-379. doi: 10.4103/1817-1745.199465.
4
Tsc2 is a molecular checkpoint controlling osteoblast development and glucose homeostasis.Tsc2 是一个分子检查点,控制着成骨细胞的发育和葡萄糖的体内平衡。
Mol Cell Biol. 2014 May;34(10):1850-62. doi: 10.1128/MCB.00075-14. Epub 2014 Mar 3.
5
Atypical presentation of tuberous sclerosis and obsessive compulsive disorder in an adult male.一名成年男性结节性硬化症和强迫症的非典型表现。
Ann Indian Acad Neurol. 2012 Apr;15(2):161-2. doi: 10.4103/0972-2327.95007.
6
Bipolar disorder associated with tuberous sclerosis: Chance association or aetiological relationship?与结节性硬化症相关的双相情感障碍:偶然关联还是病因关系?
Indian J Psychiatry. 2006 Jan;48(1):66-8. doi: 10.4103/0019-5545.31624.
7
[Multiple familiar trichoepithelioma (Brooke's syndrome) : A rare autosomal dermatosis with possible periocular manifestation].[多发性家族性毛发上皮瘤(布鲁克综合征):一种罕见的常染色体显性皮肤病,可能出现眼部周围表现]
Ophthalmologe. 2009 Aug;106(8):735-6, 738-9. doi: 10.1007/s00347-008-1848-2.
8
Cardiac rhabdomyomas and their association with tuberous sclerosis.心脏横纹肌瘤及其与结节性硬化症的关联。
Arch Dis Child. 1993 Mar;68(3):367-70. doi: 10.1136/adc.68.3.367.
9
Macrodactyly in tuberous sclerosis.结节性硬化症中的巨指(趾)畸形
J R Soc Med. 1994 Jul;87(7):419-20. doi: 10.1177/014107689408700717.
10
Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis.使用针对结节性硬化症高危家庭的全面筛查方案时的诊断和咨询困难。
J Med Genet. 1989 Nov;26(11):694-703. doi: 10.1136/jmg.26.11.694.

本文引用的文献

1
Computed tomography in diagnosis of intracranial tumors versus tubers in tuberous sclerosis.
Acta Radiol Diagn (Stockh). 1982;23(4):337-44. doi: 10.1177/028418518202300401.
2
Family studies in tuberous sclerosis. evaluation of apparently unaffected parents.结节性硬化症的家系研究。对表面正常的父母进行评估。
JAMA. 1983 Mar 11;249(10):1302-4.
3
The incidence and significance of birthmarks in a cohort of 4,641 newborns.
Pediatr Dermatol. 1983 Jul;1(1):58-68. doi: 10.1111/j.1525-1470.1983.tb01093.x.
4
Tuberous sclerosis: a new estimate of prevalence within the Oxford region.结节性硬化症:牛津地区患病率的新估计
J Med Genet. 1984 Aug;21(4):272-7. doi: 10.1136/jmg.21.4.272.
5
Early diagnosis of tuberous sclerosis by cranial ultrasonography.通过头颅超声对结节性硬化症进行早期诊断。
Arch Neurol. 1984 Dec;41(12):1302-3. doi: 10.1001/archneur.1984.04050230088029.
6
Tuberous sclerosis: a genetic study.结节性硬化症:一项遗传学研究。
J Neurol Neurosurg Psychiatry. 1969 Dec;32(6):591-603. doi: 10.1136/jnnp.32.6.591.
7
Tuberous sclerosis: neuroroentgenologic observations.
Am J Roentgenol Radium Ther Nucl Med. 1968 Sep;104(1):171-6. doi: 10.2214/ajr.104.1.171.
8
The prevalence of café-au-lait patches in tuberous sclerosis.结节性硬化症中咖啡斑的患病率。
Clin Exp Dermatol. 1985 Nov;10(6):562-5. doi: 10.1111/j.1365-2230.1985.tb00623.x.
9
The heart and tuberous sclerosis. An echocardiographic and electrocardiographic study.心脏与结节性硬化症。一项超声心动图和心电图研究。
Br Heart J. 1985 Dec;54(6):596-9. doi: 10.1136/hrt.54.6.596.
10
Pitted enamel hypoplasia in tuberous sclerosis patients and first-degree relatives.结节性硬化症患者及其一级亲属的凹坑状釉质发育不全
Clin Genet. 1987 Oct;32(4):216-21. doi: 10.1111/j.1399-0004.1987.tb03304.x.

Diagnosis of tuberous sclerosis.

作者信息

Osborne J P

机构信息

Bath Unit for Research into Paediatrics, Royal United Hospital, Avon.

出版信息

Arch Dis Child. 1988 Dec;63(12):1423-5. doi: 10.1136/adc.63.12.1423.

DOI:10.1136/adc.63.12.1423
PMID:3069050
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1779182/
Abstract
摘要