TY - JOUR AU - Slegtenhorst, M. AU - Hoogt, R. AU - Hermans, C. AU - Nellist, M. AU - Janssen, B. AU - Verhoef, S. PY - 1997 DA - 1997// TI - Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 JO - Science. VL - 277 UR - https://doi.org/10.1126/science.277.5327.805 DO - 10.1126/science.277.5327.805 ID - Slegtenhorst1997 ER - TY - JOUR PY - 1993 DA - 1993// TI - Identification and characterization of the tuberous sclerosis gene on chromosome 16 JO - Cell VL - 75 UR - https://doi.org/10.1016/0092-8674(93)90618-Z DO - 10.1016/0092-8674(93)90618-Z ID - ref2 ER - TY - JOUR AU - Curatolo, P. AU - Bombardieri, R. AU - Jozwiak, S. PY - 2008 DA - 2008// TI - Tuberous sclerosis JO - Lancet VL - 372 UR - https://doi.org/10.1016/S0140-6736(08)61279-9 DO - 10.1016/S0140-6736(08)61279-9 ID - Curatolo2008 ER - TY - JOUR AU - Henske, E. P. AU - Jozwiak, S. AU - Kingswood, J. C. AU - Sampson, J. R. AU - Thiele, E. A. PY - 2016 DA - 2016// TI - Tuberous sclerosis complex JO - Nat Rev Dis Primers VL - 2 UR - https://doi.org/10.1038/nrdp.2016.35 DO - 10.1038/nrdp.2016.35 ID - Henske2016 ER - TY - JOUR AU - Gomez, M. R. PY - 1995 DA - 1995// TI - History of the tuberous sclerosis complex JO - Brain and Development VL - 17 UR - https://doi.org/10.1016/0387-7604(94)00130-8 DO - 10.1016/0387-7604(94)00130-8 ID - Gomez1995 ER - TY - JOUR AU - Cheadle, J. P. AU - Reeve, M. P. AU - Sampson, J. R. AU - Kwiatkowski, D. J. PY - 2000 DA - 2000// TI - Molecular genetic advances in tuberous sclerosis JO - Hum Genet VL - 107 UR - https://doi.org/10.1007/s004390000348 DO - 10.1007/s004390000348 ID - Cheadle2000 ER - TY - JOUR AU - Curatolo, P. AU - Maria, B. L. PY - 2013 DA - 2013// TI - Tuberous sclerosis JO - Handb Clin Neurol VL - 111 UR - https://doi.org/10.1016/B978-0-444-52891-9.00038-5 DO - 10.1016/B978-0-444-52891-9.00038-5 ID - Curatolo2013 ER - TY - JOUR AU - Langkau, N. AU - Martin, N. AU - Brandt, R. AU - Zugge, K. AU - Quast, S. AU - Wiegele, G. PY - 2002 DA - 2002// TI - TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios JO - Eur J Pediatr VL - 161 UR - https://doi.org/10.1007/s00431-001-0903-7 DO - 10.1007/s00431-001-0903-7 ID - Langkau2002 ER - TY - JOUR AU - Dabora, S. L. AU - Jozwiak, S. AU - Franz, D. N. AU - Roberts, P. S. AU - Nieto, A. AU - Chung, J. PY - 2001 DA - 2001// TI - Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs JO - Am J Hum Genet VL - 68 UR - https://doi.org/10.1086/316951 DO - 10.1086/316951 ID - Dabora2001 ER - TY - JOUR AU - Kothare, S. V. AU - Singh, K. AU - Chalifoux, J. R. AU - Staley, B. A. AU - Weiner, H. L. AU - Menzer, K. PY - 2014 DA - 2014// TI - Severity of manifestations in tuberous sclerosis complex in relation to genotype JO - Epilepsia. VL - 55 UR - https://doi.org/10.1111/epi.12680 DO - 10.1111/epi.12680 ID - Kothare2014 ER - TY - JOUR AU - Jones, J. AU - Nowacki, A. S. AU - Greene, A. AU - Traul, C. AU - Goldfarb, J. PY - 2017 DA - 2017// TI - Investigating parent needs, participation, and psychological distress in the Children's hospital JO - Hosp Pediatr VL - 7 UR - https://doi.org/10.1542/hpeds.2016-0175 DO - 10.1542/hpeds.2016-0175 ID - Jones2017 ER - TY - JOUR AU - Amin, S. AU - Lux, A. AU - Calder, N. AU - Laugharne, M. AU - Osborne, J. AU - O'callaghan, F. PY - 2017 DA - 2017// TI - Causes of mortality in individuals with tuberous sclerosis complex JO - Dev Med Child Neurol VL - 59 UR - https://doi.org/10.1111/dmcn.13352 DO - 10.1111/dmcn.13352 ID - Amin2017 ER - TY - JOUR AU - Curatolo, P. AU - Moavero, R. PY - 2012 DA - 2012// TI - mTOR inhibitors in tuberous sclerosis complex JO - Curr Neuropharmacol VL - 10 UR - https://doi.org/10.2174/157015912804499537 DO - 10.2174/157015912804499537 ID - Curatolo2012 ER - TY - JOUR AU - Krueger, D. A. AU - Sadhwani, A. AU - Byars, A. W. AU - Vries, P. J. AU - Franz, D. N. AU - Whittemore, V. H. PY - 2017 DA - 2017// TI - Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders JO - Ann Clin Transl Neurol VL - 4 UR - https://doi.org/10.1002/acn3.494 DO - 10.1002/acn3.494 ID - Krueger2017 ER - TY - STD TI - Novartis Pharmaceuticals Corporation. Afinitor® (everolimus tablets for oral administration): US prescribing information. Retrieved 17 July 2020, from http://www.pharma.us.novartis.com/product/pi/pdf/afinitor.pdf. UR - http://www.pharma.us.novartis.com/product/pi/pdf/afinitor.pdf ID - ref15 ER - TY - STD TI - European Medicines Agency. Votubia® (everolimus): summary of product characteristics. Retrieved 17 July 2020, from https://www.ema.europa.eu/en/documents/product-information/votubia-epar-product-information_en.pdf. UR - https://www.ema.europa.eu/en/documents/product-information/votubia-epar-product-information_en.pdf ID - ref16 ER - TY - STD TI - Xu KF, Tian X, Ryu JH. Recent advances in the management of lymphangioleiomyomatosis. F1000Res. 2018;7:F1000 Faculty Rev-758. https://doi.org/10.12688/f1000research.14564.1. ID - ref17 ER - TY - JOUR AU - Bissler, J. J. AU - McCormack, F. X. AU - Young, L. R. AU - Elwing, J. M. AU - Chuck, G. AU - Leonard, J. M. PY - 2008 DA - 2008// TI - Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis JO - N Engl J Med VL - 358 UR - https://doi.org/10.1056/NEJMoa063564 DO - 10.1056/NEJMoa063564 ID - Bissler2008 ER - TY - JOUR AU - Davies, D. M. AU - Vries, P. J. AU - Johnson, S. R. AU - McCartney, D. L. AU - Cox, J. A. AU - Serra, A. L. PY - 2011 DA - 2011// TI - Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial JO - Clin Cancer Res VL - 17 UR - https://doi.org/10.1158/1078-0432.CCR-11-0445 DO - 10.1158/1078-0432.CCR-11-0445 ID - Davies2011 ER - TY - JOUR AU - Kingswood, J. C. AU - d'Augeres, G. B. AU - Belousova, E. AU - Ferreira, J. C. AU - Carter, T. AU - Castellana, R. PY - 2017 DA - 2017// TI - TuberOus SClerosis registry to increase disease awareness (TOSCA) - baseline data on 2093 patients JO - Orphanet J Rare Dis VL - 12 UR - https://doi.org/10.1186/s13023-016-0553-5 DO - 10.1186/s13023-016-0553-5 ID - Kingswood2017 ER - TY - JOUR AU - Devlin, L. A. AU - Shepherd, C. H. AU - Crawford, H. AU - Morrison, P. J. PY - 2006 DA - 2006// TI - Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland JO - Dev Med Child Neurol VL - 48 UR - https://doi.org/10.1017/S0012162206001058 DO - 10.1017/S0012162206001058 ID - Devlin2006 ER - TY - JOUR AU - Hong, C. H. AU - Darling, T. N. AU - Lee, C. H. PY - 2009 DA - 2009// TI - Prevalence of tuberous sclerosis complex in Taiwan: a national population-based study JO - Neuroepidemiology. VL - 33 UR - https://doi.org/10.1159/000254569 DO - 10.1159/000254569 ID - Hong2009 ER - TY - JOUR AU - Kristof, A. S. AU - Zhi Li, P. AU - Major, P. AU - Landry, J. S. PY - 2015 DA - 2015// TI - Lymphangioleiomyomatosis and tuberous sclerosis complex in Quebec: prevalence and health-care utilization JO - Chest VL - 148 UR - https://doi.org/10.1378/chest.14-3095 DO - 10.1378/chest.14-3095 ID - Kristof2015 ER - TY - JOUR AU - Hong, C. H. AU - Tu, H. P. AU - Lin, J. R. AU - Lee, C. H. PY - 2016 DA - 2016// TI - An estimation of the incidence of tuberous sclerosis complex in a nationwide retrospective cohort study (1997-2010) JO - Br J Dermatol VL - 174 UR - https://doi.org/10.1111/bjd.14415 DO - 10.1111/bjd.14415 ID - Hong2016 ER - TY - JOUR AU - Welin, K. O. AU - Carlqvist, P. AU - Svensson, A. AU - Althin, R. AU - Eklund, E. AU - Rask, O. PY - 2017 DA - 2017// TI - Epilepsy in tuberous sclerosis patients in Sweden - healthcare utilization, treatment, morbidity, and mortality using national register data JO - Seizure VL - 53 UR - https://doi.org/10.1016/j.seizure.2017.10.005 DO - 10.1016/j.seizure.2017.10.005 ID - Welin2017 ER - TY - JOUR AU - Zollner, J. P. AU - Franz, D. N. AU - Hertzberg, C. AU - Nabbout, R. AU - Rosenow, F. AU - Sauter, M. PY - 2020 DA - 2020// TI - A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC) JO - Orphanet J Rare Dis VL - 15 UR - https://doi.org/10.1186/s13023-019-1258-3 DO - 10.1186/s13023-019-1258-3 ID - Zollner2020 ER - TY - JOUR AU - SHEPHERD, C. W. AU - GOMEZ, M. R. PY - 1991 DA - 1991// TI - Mortality in the Mayo Clinic tuberous sclerosis complex study JO - Ann N Y Acad Sci VL - 615 UR - https://doi.org/10.1111/j.1749-6632.1991.tb37786.x DO - 10.1111/j.1749-6632.1991.tb37786.x ID - SHEPHERD1991 ER - TY - JOUR AU - Shepherd, C. W. AU - Gomez, M. R. AU - Lie, J. T. AU - Crowson, C. S. PY - 1991 DA - 1991// TI - Causes of death in patients with tuberous sclerosis JO - Mayo Clin Proc VL - 66 UR - https://doi.org/10.1016/S0025-6196(12)61196-3 DO - 10.1016/S0025-6196(12)61196-3 ID - Shepherd1991 ER - TY - JOUR AU - Rentz, A. M. AU - Skalicky, A. M. AU - Liu, Z. AU - Wheless, J. W. AU - Dunn, D. W. AU - Frost, M. D. PY - 2015 DA - 2015// TI - Tuberous sclerosis complex: a survey of health care resource use and health burden JO - Pediatr Neurol VL - 52 UR - https://doi.org/10.1016/j.pediatrneurol.2014.11.013 DO - 10.1016/j.pediatrneurol.2014.11.013 ID - Rentz2015 ER - TY - JOUR AU - Hallett, L. AU - Foster, T. AU - Liu, Z. AU - Blieden, M. AU - Valentim, J. PY - 2011 DA - 2011// TI - Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review JO - Curr Med Res Opin VL - 27 UR - https://doi.org/10.1185/03007995.2011.586687 DO - 10.1185/03007995.2011.586687 ID - Hallett2011 ER - TY - STD TI - Authority HKH. Hospital Authority statistical report 2016-2017. http://www3.ha.org.hk/data/HAStatistics/DownloadReport/2. (Accessed 18 January 2020). UR - http://www3.ha.org.hk/data/HAStatistics/DownloadReport/2 ID - ref31 ER - TY - JOUR AU - Northrup, H. AU - Krueger, D. A. PY - 2013 DA - 2013// TI - International tuberous sclerosis complex consensus G. tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational tuberous sclerosis complex consensus conference JO - Pediatr Neurol VL - 49 UR - https://doi.org/10.1016/j.pediatrneurol.2013.08.001 DO - 10.1016/j.pediatrneurol.2013.08.001 ID - Northrup2013 ER - TY - STD TI - Department HCaS. Hong Kong Annual Digest of Statistics. https://www.censtatdgovhk/. (Accessed 18 January 2020). UR - https://www.censtatdgovhk/ ID - ref33 ER - TY - STD TI - Authority HKH. Hospital Authority annual report 2018-2019. https://www.haorghk/ho/corpcomm/AR201819/PDF/HA_Annual_Report_2018-2019pdf. (Accessed 18 January 2020). UR - https://www.haorghk/ho/corpcomm/AR201819/PDF/HA_Annual_Report_2018-2019pdf ID - ref34 ER - TY - JOUR AU - Cheung, K. S. AU - Seto, W. K. AU - Fung, J. AU - Mak, L. Y. AU - Lai, C. L. AU - Yuen, M. F. PY - 2017 DA - 2017// TI - Epidemiology and natural history of Wilson's disease in the Chinese: a territory-based study in Hong Kong between 2000 and 2016 JO - World J Gastroenterol VL - 23 UR - https://doi.org/10.3748/wjg.v23.i43.7716 DO - 10.3748/wjg.v23.i43.7716 ID - Cheung2017 ER - TY - JOUR AU - Chiu, S. S. AU - Lau, Y. L. AU - Chan, K. H. AU - Wong, W. H. AU - Peiris, J. S. PY - 2002 DA - 2002// TI - Influenza-related hospitalizations among children in Hong Kong JO - N Engl J Med VL - 347 UR - https://doi.org/10.1056/NEJMoa020546 DO - 10.1056/NEJMoa020546 ID - Chiu2002 ER - TY - JOUR AU - Walker, C. E. AU - Mahede, T. AU - Davis, G. AU - Miller, L. J. AU - Girschik, J. AU - Brameld, K. PY - 2017 DA - 2017// TI - The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort JO - Genet Med VL - 19 UR - https://doi.org/10.1038/gim.2016.143 DO - 10.1038/gim.2016.143 ID - Walker2017 ER - TY - JOUR AU - Chiu, A. T. G. AU - Chung, C. C. Y. AU - Wong, W. H. S. AU - Lee, S. L. AU - Chung, B. H. Y. PY - 2018 DA - 2018// TI - Healthcare burden of rare diseases in Hong Kong - adopting ORPHAcodes in ICD-10 based healthcare administrative datasets JO - Orphanet J Rare Dis VL - 13 UR - https://doi.org/10.1186/s13023-018-0892-5 DO - 10.1186/s13023-018-0892-5 ID - Chiu2018 ER - TY - JOUR AU - Kingswood, J. C. AU - Crawford, P. AU - Johnson, S. R. AU - Sampson, J. R. AU - Shepherd, C. AU - Demuth, D. PY - 2016 DA - 2016// TI - The economic burden of tuberous sclerosis complex in the UK: a retrospective cohort study in the clinical practice research Datalink JO - J Med Econ VL - 19 UR - https://doi.org/10.1080/13696998.2016.1199432 DO - 10.1080/13696998.2016.1199432 ID - Kingswood2016 ER - TY - JOUR AU - Auvin, S. AU - Bissler, J. J. AU - Cottin, V. AU - Fujimoto, A. AU - Hofbauer, G. F. L. AU - Jansen, A. C. PY - 2019 DA - 2019// TI - A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report JO - Orphanet J Rare Dis. VL - 14 UR - https://doi.org/10.1186/s13023-019-1072-y DO - 10.1186/s13023-019-1072-y ID - Auvin2019 ER - TY - JOUR AU - Bar, C. AU - Ghobeira, R. AU - Azzi, R. AU - Ville, D. AU - Riquet, A. AU - Touraine, R. PY - 2019 DA - 2019// TI - Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex JO - Epilepsy Behav VL - 96 UR - https://doi.org/10.1016/j.yebeh.2019.04.027 DO - 10.1016/j.yebeh.2019.04.027 ID - Bar2019 ER - TY - JOUR AU - Sancak, O. AU - Nellist, M. AU - Goedbloed, M. AU - Elfferich, P. AU - Wouters, C. AU - Maat-Kievit, A. PY - 2005 DA - 2005// TI - Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex JO - Eur J Hum Genet VL - 13 UR - https://doi.org/10.1038/sj.ejhg.5201402 DO - 10.1038/sj.ejhg.5201402 ID - Sancak2005 ER - TY - STD TI - Authority HKH. Self-financed Drugs Available for Purchase by Patients at HA Pharmacies. http://www.haorghk/hadf/en-us/Updated-HA-Drug-Formulary/List-of-Self-financed-Items-to-be-sold-via-HA-pharmacies. (Accessed 18 January 2020). UR - http://www.haorghk/hadf/en-us/Updated-HA-Drug-Formulary/List-of-Self-financed-Items-to-be-sold-via-HA-pharmacies ID - ref43 ER -