- Experience of a Single Center in Treating Multiple Manifestations of Tuberous Sclerosis Complex with Everolimus
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Ahn H, Yum MS, Jang HN, Song C, Ko TS
- KMID: 2470590
- Ann Child Neurol.
- 2019 Dec;27(4):135-145.
- doi: 10.26815/acn.2019.00206
PURPOSE: The aim of this study was to evaluate the efficacy and tolerability of everolimus, an oral mammalian target of rapamycin (mTOR) inhibitor, for the treatment of tuberous sclerosis complex... -
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- Diagnosis of Tuberous Sclerosis Complex and Epilepsy Outcomes in Children with Fetal Cardiac Rhabdomyoma: A Long Term Follow-up Study
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Kim D, Kim HJ, You SJ, Yum MS, Ko TS
- KMID: 2470589
- Ann Child Neurol.
- 2019 Dec;27(4):128-134.
- doi: 10.26815/acn.2019.00185
PURPOSE: Prenatal diagnosis of cardiac rhabdomyoma is suggestive of the presence of tuberous sclerosis complex (TSC), which is commonly associated with epilepsy. This study investigated the diagnostic rate of TSC,... -
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- Fetal Ultrasonography for Prenatal Detection of Tuberous Sclerosis Associated with Cardiac Rhabdomyoma
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Kang MJ, Hong SY, Kwon BY, Jeong JE, Bae JY
- KMID: 2468546
- Perinatology.
- 2019 Dec;30(4):240-243.
- doi: 10.14734/PN.2019.30.4.240
Cardiac rhabdomyoma is common cardiac mass found during the fetal period. Cardiac rhabdomyoma and tuberous sclerosis have significant associations. Tuberous sclerosis in newborns can cause disability in nearly all organs.... -
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- Sirolimus therapy for fetal cardiac rhabdomyoma in a pregnant woman with tuberous sclerosis
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Park H, Chang CS, Choi SJ, Oh SY, Roh CR
- KMID: 2451658
- Obstet Gynecol Sci.
- 2019 Jul;62(4):280-284.
- doi: 10.5468/ogs.2019.62.4.280
Rhabdomyoma is the most common fetal cardiac tumor, and its development is related to tuberous sclerosis. Fetal cardiac rhabdomyomas often spontaneously regress in utero or after birth, but large tumors... -
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- Severe Hypocalcemia in a Patient with Tuberous Sclerosis Complex
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Kim K, Kim S, Na KY, Chae DW, Chin HJ
- KMID: 2451518
- Electrolyte Blood Press.
- 2019 Jun;17(1):21-24.
- doi: 10.5049/EBP.2019.17.1.21
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organs, including the brain, skin, lung, and kidney. Among the multiple comorbidities in TSC, bone mineral disturbances remain... -
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- Tuberous Sclerosis Complex with Crohn's Disease
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Kim MH, Lee YJ, Kim JY, Yi YY, Kang JW
- KMID: 2437115
- J Korean Child Neurol Soc.
- 2018 Dec;26(4):284-287.
- doi: 10.26815/jkcns.2018.26.4.284
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutation of one of two genes, TSC1 (encoding hamartin, 9q34) and TSC2 (encoding tuberin, 16p13). It invades the central... -
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- Fibrous Plaque of the Eyelid in a Patient with Tuberous Sclerosis Responding to Everolimus
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Park SM, Kim BS, Kim MB, Lee YJ, Ko HC
- KMID: 2414696
- Ann Dermatol.
- 2018 Apr;30(2):247-249.
- doi: 10.5021/ad.2018.30.2.247
No abstract available. -
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- Tuberous Sclerosis Presenting with Connective Tissue Nevi Only: Usefulness of Genetic Testing
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Park SM, Kim JM, Kim GW, Mun J, Song M, Kim HS, Ko HC, Kim BS, Kim MB
- KMID: 2369693
- Korean J Dermatol.
- 2017 Jan;55(1):56-59.
Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with variable manifestations. The diagnosis is based on clinical criteria, and is divided into definite, probable, and possible TSC. If patients present... -
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- Clinical Usefulness of Aripiprazole and Lamotrigine in Schizoaffective Presentation of Tuberous Sclerosis
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Lee SY, Min JA, Lee IG, Kim JJ
- KMID: 2348481
- Clin Psychopharmacol Neurosci.
- 2016 Aug;14(3):305-310.
- doi: 10.9758/cpn.2016.14.3.305
Tuberous sclerosis is not as rare as once thought and has high psychiatric comorbidities. However, bipolar or psychotic features associated with tuberous sclerosis have been rarely reported. This report first... -
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- Rare Lung Manifestation of Multifocal Micronodular Pneumocyte Hyperplasia in a Teenage Girl with Tuberous Sclerosis Complex
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Ha SM, Yoon HK, Lee SK
- KMID: 2344803
- J Korean Soc Radiol.
- 2016 Aug;75(2):133-137.
- doi: 10.3348/jksr.2016.75.2.133
Multifocal micronodular pneumocyte hyperplasia (MMPH) is a relatively rare pulmonary disorder that can be associated with tuberous sclerosis complex (TSC). It has been rarely reported in children or adolescents. MMPH... -
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- Fundus Autofluorescence, Fluorescein Angiography and Spectral Domain Optical Coherence Tomography Findings of Retinal Astrocytic Hamartomas in Tuberous Sclerosis
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Kwon YK, Kang DJ, Lim JC, Kim JH, Park DH, Shin JP
- KMID: 2213859
- J Korean Ophthalmol Soc.
- 2016 Jan;57(1):134-140.
- doi: 10.3341/jkos.2016.57.1.134
PURPOSE: To analyze the structural and morphological characteristics of retinal astrocytic hamartomas in tuberous sclerosis patients using fundus autofluorescence, fluorescein angiography and spectral-domain optical coherence tomography. CASE SUMMARY: Fundus examination, fundus... -
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- A Case of Facial Angiofibromas in Tuberous Sclerosis Treated with Combination of 10,600 nm Carbon Dioxide Fractional Laser, Pin-hole Carbon Dioxide Laser, Vascular Laser and Topical Rapamycin
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Kim MJ, Roh NK, Lee YW, Choe YB, Ahn KJ
- KMID: 2129429
- Korean J Dermatol.
- 2015 Nov;53(9):743-745.
No abstract available. -
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- [Secondary publication] Traumatic Rupture of a Huge Renal Angiomyolipoma in a Tuberous Sclerosis Patient
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Ha H, Park JH, Cho NY
- KMID: 2044954
- Korean J Leg Med.
- 2015 Aug;39(3):84-87.
- doi: 10.7580/kjlm.2015.39.3.84
A renal angiomyolipoma (AML) is an unusual benign tumor that is composed of adipose tissue, smooth muscle, and abnormal blood vessels. AMLs can occur sporadically or can be associated with... -
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- Using Sirolimus for Posttransplant Management and Reduction of Tuberous Sclerosis Complex Progression in a Patient with End Stage Renal Disease Caused by Tuberous Sclerosis Complex
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Lee KH, Kim HS, Yun SH, Lee JH, Oh JS, Kim SM, Sin YH, Kim JK
- KMID: 1941320
- J Korean Soc Transplant.
- 2014 Dec;28(4):241-245.
- doi: 10.4285/jkstn.2014.28.4.241
Tuberous sclerosis complex (TSC) is a neurocutaneous disease characterized by the formation of hamartomas in multiple organs. TSC can show lesions including facial angiofibroma, shagreen patch on the skin, cortical... -
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- Various Renal Manifestations in Children with Tuberous Sclerosis Complex
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Lim JH, Park MS, Pai KS, Kim SH, Shin JI, Park SJ
- KMID: 1733228
- J Korean Soc Pediatr Nephrol.
- 2014 Oct;18(2):132-136.
- doi: 10.3339/jkspn.2014.18.2.132
Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple organ systems and causes tumors. It is important that physicians are aware of the manifestations of TSC, and that... -
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- Chordoid Meningioma in a Pediatric Patient with Tuberous Sclerosis Complex
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Lee J, Yu HJ, Lee J, Kim JH, Shin HJ, Suh YL, Lee M
- KMID: 1719565
- Korean J Pathol.
- 2014 Aug;48(4):302-306.
- doi: 10.4132/KoreanJPathol.2014.48.4.302
No abstract available. -
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- A Case of Tuberous Sclerosis with Subependymal Giant Cell Astrocytoma (SEGA) Treated with Gamma Knife Surgery
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Jung MK, Lee SM, Yu R, Kim HD, Lee JS, Kim DS, Kang HC
- KMID: 1961836
- J Korean Child Neurol Soc.
- 2013 Sep;21(3):195-199.
Subependymal giant cell astrocytoma (SEGA) is the most common brain tumor that develops in 5-20% of patients with tuberous sclerosis complex. Although these lesions are slowly growing tumor, they can... -
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- Tuberous Sclerosis Manifested by Spontaneous Rupture of Renal Angiomyolipoma in a Patient with Polycystic Kidney Disease
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Kim TW, Kim S, Yang SB, Lee CH, Do JY, Park JW
- KMID: 2253725
- Korean J Nephrol.
- 2007 Nov;26(6):772-778.
Tuberous sclerosis is an autosomal dominant disorder characterized by seizure, mental retardation and harmatomatous lesions in multiple organs. The renal lesions of tuberous sclerosis are multiple angiomyolipomas often associated with... -
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- A Case of Tuberous Sclerosis Complicated with Massive Bleeding of Renal Angiomyolipoma
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Byun SJ, Lee KB, Lee YS, Kim H, Hong HP, Kim SK, Lee YR, Chae SW, Son JH
- KMID: 2079757
- Korean J Nephrol.
- 2007 Jul;26(4):485-490.
Tuberous sclerosis (TSC) is a systemic, autosomal dominant disorder resulting from mutations in one of two genes, TSC1 (encoding hamartin) or TSC2 (enconding tuberin). TSC causes seizure, mental retardation and... -
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- Epileptogenic Properties of Balloon Cells in Cortical Tubers of Tuberous Sclerosis: Upregulation of Drug Resistance Proteins
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Kang NG, Chang HJ, Ok YC, Lee RS, Park SK, Lim JS, Cho KY, Kim HI, Kim JH, Oh HS, Lee MC
- KMID: 1956262
- J Korean Neurosurg Soc.
- 2007 Jun;41(6):397-402.
OBJECTIVES: Balloon cells and dysplastic neurons are histopathological hallmarks of the cortical tubers of tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) of the Taylor type. They are believed... -
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