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Thematische Bibliographien / Syndrome d’Usher de type 3 / Zeitschriftenartikel

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Zeitschriftenartikel zum Thema „Syndrome d’Usher de type 3“

Autor: Grafiati

Veröffentlicht am 25. Mai 2024

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1

Shah, BelaJ, AshishK Jagati, NileshK Katrodiya, and SonalM Patel. "Griscelli syndrome type-3." Indian Dermatology Online Journal 7, no. 6 (2016): 506. http://dx.doi.org/10.4103/2229-5178.193910.

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2

Gazizova, G. R., M. R. Shaydullina, F. V. Valeeva, and A. I. Galieva. "Autoimmune polyglandular syndrome type 3." Medical Herald of the South of Russia 11, no. 4 (2020): 78–83. http://dx.doi.org/10.21886/2219-8075-2020-11-4-78-83.

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Autoimmune polyglandular syndrome type 3 (APS type 3) is a combination of autoimmune thyroid damage in combination with one or more autoimmune endocrine or non-endocrine diseases. It is represented by three subtypes: APS 3A (graves ‘ Disease, or Hashimoto’s thyroiditis and type 1 diabetes mellitus), APS 3B (autoimmune thyroid disease and pernicious anemia), APS 3C (autoimmune thyroid disease and vitiligo, alopecia, and/or other organ-specific autoimmune diseases). Clinical observations of patients with type 3 APS are presented: characteristic clinical syndromes and clinical and laboratory char

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3

Dhankar, Neha, Isha Gupta, Surabhi Dayal, and Sonia Chhabra. "Griscelli syndrome type 3 in siblings." International Journal of Trichology 14, no. 1 (2022): 38. http://dx.doi.org/10.4103/ijt.ijt_42_20.

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4

Pakarinen, L., S. Karjalainen, K. O. J. Simola, P. Laippala, and H. Kaitalo. "Usher's syndrome type 3 in Finland." Laryngoscope 105, no. 6 (1995): 613–17. http://dx.doi.org/10.1288/00005537-199506000-00010.

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5

Ruan, Yanfei, Nian Liu, Rong Bai, Silvia G. Priori, and Carlo Napolitano. "Congenital Long QT Syndrome Type 3." Cardiac Electrophysiology Clinics 6, no. 4 (2014): 705–13. http://dx.doi.org/10.1016/j.ccep.2014.07.007.

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6

Kahara, Toshio, Hitomi Wakakuri, Juri Takatsuji, et al. "Autoimmune Polyglandular Syndrome Type 3 with Anorexia." Case Reports in Endocrinology 2012 (2012): 1–4. http://dx.doi.org/10.1155/2012/657156.

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A 71-year-old man with diabetes mellitus visited our hospital with complaints of anorexia and weight loss (12 kg/3 months). He had megaloblastic anemia, cobalamin level was low, and autoantibody to intrinsic factor was positive. He was treated with intramuscular cyanocobalamin, and he was able to consume meals. GAD autoantibody and ICA were positive, and he was diagnosed with slowly progressive type 1 diabetes mellitus (SPIDDM). Thyroid autoantibodies were positive. According to these findings, he was diagnosed with autoimmune polyglandular syndrome type 3 with SPIDDM, pernicious anemia, and H

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7

Durongpisitkul, K., and Vymutt J. Gururaj. "Parainfluenza virus type 3 and pertussis syndrome." Indian Journal of Pediatrics 60, no. 1 (1993): 139–42. http://dx.doi.org/10.1007/bf02860523.

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8

Kerr, Natalie C., R. Sid Wilroy, and Robert A. Kaufman. "Type 3 Pfeiffer syndrome with normal thumbs." American Journal of Medical Genetics 66, no. 2 (1996): 138–43. http://dx.doi.org/10.1002/(sici)1096-8628(19961211)66:2<138::aid-ajmg3>3.0.co;2-n.

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9

Kaplan, Paige, and Leonhard S. Wolfe. "Sanfilippo syndrome type D." Journal of Pediatrics 110, no. 2 (1987): 267–71. http://dx.doi.org/10.1016/s0022-3476(87)80171-3.

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10

Kim, Ungsoo Samuel, Joon H. Lee, and Seung-Hee Baek. "Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome." Graefe's Archive for Clinical and Experimental Ophthalmology 251, no. 5 (2012): 1445–46. http://dx.doi.org/10.1007/s00417-012-2122-5.

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11

Betterle, Corrado, Silvia Garelli, Graziella Coco, and Patrizia Burra. "A rare combination of type 3 autoimmune polyendocrine syndrome (APS-3) or multiple autoimmune syndrome (MAS-3)." Autoimmunity Highlights 5, no. 1 (2014): 27–31. http://dx.doi.org/10.1007/s13317-013-0055-6.

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12

Patni, Nivedita, Abhimanyu Garg, and Chao Xing. "Diet-Responsive Hypercholesterolemia With Cardiofaciocutaneous Syndrome Type 3." Journal of the Endocrine Society 5, Supplement_1 (2021): A308. http://dx.doi.org/10.1210/jendso/bvab048.628.

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Abstract Background: Molecular basis of diet responsive hypercholesterolemia remains unclear. We report diet-responsive severe hypercholesterolemia in a young female with cardiofaciocutaneous syndrome type 3 (CFC3) due to a heterozygous pathogenic MAP2K1 variant, suggesting a role of common MAPK variants in LDL-cholesterol (LDL-C) response to diet. Clinical case: A 3-year-old Caucasian female with CFC3 (macrocephaly, frontal bossing, wide nasal root with depressed bridge, anteverted nares, low set fleshy ears, congenital pulmonic valve stenosis, postnatal growth deficiency, hypotonia, and neur

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13

Drubel, Kim, Benedikt Marahrens, Oliver Ritter, and Daniel Patschan. "Kidney-Related Outcome in Cardiorenal Syndrome Type 3." International Journal of Nephrology 2022 (February 7, 2022): 1–9. http://dx.doi.org/10.1155/2022/4895434.

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Background and Aim. In cardiorenal syndrome (CRS) type 3, acute kidney injury (AKI) induces and, sometimes, even perpetuates acute cardiac pathologies such as arrhythmias with or without cardiac decompensation or the latter due to other causes. Epidemiological data on CRS type 3 are limited. The aim of this study was to analyze epidemiological and outcome variables in CRS type 3. Methods. A single-center, retrospective and observational trial. All subjects with positive AKI alert, treated at the University Hospital Brandenburg between January and December 2019, were evaluated. Definition of CR

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14

Cook, Susan A., Gayle B. Collin, Roderick T. Bronson, et al. "A Mouse Model for Meckel Syndrome Type 3." Journal of the American Society of Nephrology 20, no. 4 (2009): 753–64. http://dx.doi.org/10.1681/asn.2008040412.

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15

Wilde, Arthur A. M., Arthur J. Moss, Elizabeth S. Kaufman, et al. "Clinical Aspects of Type 3 Long-QT Syndrome." Circulation 134, no. 12 (2016): 872–82. http://dx.doi.org/10.1161/circulationaha.116.021823.

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16

Dash, Sananta Kumar, Sudha Kansal, Rakesh Sharma, Devender Kumar Agrawal, and Harsh Dua. "Acquired hemophilia complicated by cardiorenal syndrome type 3." Indian Journal of Critical Care Medicine 17, no. 6 (2013): 378–81. http://dx.doi.org/10.4103/0972-5229.123456.

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17

Nishizaki, Naoto, Shuichiro Fujinaga, Daishi Hirano, et al. "Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome." Clinical Nephrology 81, no. 05 (2014): 369–73. http://dx.doi.org/10.5414/cn107464.

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18

Tsilou, Ekaterini T., Benjamin I. Rubin, George F. Reed, et al. "Milder ocular findings in Hermansky–Pudlak syndrome type 3 compared with Hermansky–Pudlak syndrome type 1." Ophthalmology 111, no. 8 (2004): 1599–603. http://dx.doi.org/10.1016/j.ophtha.2003.12.058.

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19

Postema, Pieter G., and Raymond L. Woosley. "Use of Drugs in Long QT Syndrome Type 3 and Brugada Syndrome." Cardiac Electrophysiology Clinics 6, no. 4 (2014): 811–17. http://dx.doi.org/10.1016/j.ccep.2014.08.004.

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20

Akgun, Ozlem, Ceyhan Altun, Gunseli Polat, and Ceren Yildirim. "Oral and dental findings of Griscelli syndrome type 3." Archives of Clinical and Experimental Surgery (ACES) 4, no. 3 (2015): 164. http://dx.doi.org/10.5455/aces.20130226034218.

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21

Horino, Taro, Masami Ogasawara, Osamu Ichii, and Yoshio Terada. "Autoimmune polyglandular syndrome type 3 variant in rheumatoid arthritis." Romanian Journal of Internal Medicine 58, no. 1 (2020): 40–43. http://dx.doi.org/10.2478/rjim-2019-0024.

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AbstractIntroduction. Although type 1 diabetes mellitus is largely associated with autoimmune thyroid disease and this entity has been recently referred to as autoimmune polyglandular syndrome type 3 variant, the autoimmune polyglandular syndrome type 3 variant in patients with rheumatoid arthritis has not been reported so far. We herein describe the first case of rheumatoid arthritis that was associated with autoimmune polyglandular syndrome type 3 variant.Case report. A 77-year-old woman with a 15-year history of rheumatoid arthritis (RA) and a 10-year history of type 2 diabetes mellitus (T2

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22

Otsubo, Yuto, Yuji Kano, Hiroshi Suzumura, and Shigemi Yoshihara. "Type 3 antenatal Bartter syndrome presenting with mild polyuria." BMJ Case Reports 14, no. 4 (2021): e242086. http://dx.doi.org/10.1136/bcr-2021-242086.

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Bartter syndrome (BS) is a well-recognised inherited tubular dysfunction that causes polyuria, metabolic alkalosis and hypokalaemia. Among BS cases, antenatal/neonatal BS (ABS) usually shows distinct polyhydramnios prenatally and presents features of BS in the early neonatal period. We encountered a premature infant with type 3 ABS presenting with mild polyuria and discuss the pathogenesis of mild polyuria in type 3 ABS. A male infant was born at 31 weeks’ gestation. His mother received amniocentesis because of polyhydramnios. Hyponatraemia and hypokalaemia appeared within 3 days after birth.

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23

Benkhaira, N., N. Kerouaz, and Y. Kitouni. "Syndrome de Cockayne type 3 ; à propos d’un cas." La Revue de Médecine Interne 42 (December 2021): A420. http://dx.doi.org/10.1016/j.revmed.2021.10.142.

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24

Sharma, Somya, VivekKumar Dey, Animesh Saxena, and Anil Gour. "Griscelli syndrome Type 3 in three non-identical siblings." Journal of Mahatma Gandhi Institute of Medical Sciences 26, no. 1 (2021): 63. http://dx.doi.org/10.4103/jmgims.jmgims_35_19.

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25

Seys, Elsa, Olga Andrini, Mathilde Keck, et al. "Clinical and Genetic Spectrum of Bartter Syndrome Type 3." Journal of the American Society of Nephrology 28, no. 8 (2017): 2540–52. http://dx.doi.org/10.1681/asn.2016101057.

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26

Alcid, Joel, Jeffrey Kim, David Bruni, and Ibiyonu Lawrence. "A Rare Case of Hermansky-Pudlak Syndrome Type 3." Journal of Hematology 7, no. 2 (2018): 76–78. http://dx.doi.org/10.14740/jh387w.

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27

KAUFMAN, ELIZABETH S. "Use of Ranolazine in Long-QT Syndrome Type 3." Journal of Cardiovascular Electrophysiology 19, no. 12 (2008): 1294–95. http://dx.doi.org/10.1111/j.1540-8167.2008.01255.x.

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28

Brookler, Kenneth H. "Electronystagmography in Ménière's Syndrome: Type 3 Simultaneous Binaural Bithermal." Ear, Nose & Throat Journal 79, no. 10 (2000): 767. http://dx.doi.org/10.1177/014556130007901004.

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29

Dittmar, Manuela, and George J. Kahaly. "Genetics of the Autoimmune Polyglandular Syndrome Type 3 Variant." Thyroid 20, no. 7 (2010): 737–43. http://dx.doi.org/10.1089/thy.2010.1639.

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30

Quintos, JB, Monica Grover, Charlotte M. Boney, and Max Salas. "Autoimmune polyglandular syndrome Type 3 and growth hormone deficiency." Pediatric Diabetes 11, no. 6 (2010): 438–42. http://dx.doi.org/10.1111/j.1399-5448.2009.00622.x.

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31

Chuasuwan, Anan, and John A. Kellum. "Cardio-Renal Syndrome Type 3: Epidemiology, Pathophysiology, and Treatment." Seminars in Nephrology 32, no. 1 (2012): 31–39. http://dx.doi.org/10.1016/j.semnephrol.2011.11.005.

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32

Kunz, Robert, and Russell Valentine. "Marfan's Syndrome Presenting as a Type 3 Aortic Dissection." Chest 88, no. 3 (1985): 463–65. http://dx.doi.org/10.1378/chest.88.3.463.

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33

Colussi, Giacomo, Maria Elisabetta De Ferrari, Silvana Tedeschi, Silvia Prandoni, Marie Louise Syrén, and Giovanni Civati. "Bartter syndrome type 3: an unusual cause of nephrolithiasis." Nephrology Dialysis Transplantation 17, no. 3 (2002): 521–23. http://dx.doi.org/10.1093/ndt/17.3.521.

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34

Lamey, P. J., A. B. Lamb, A. Hughes, K. A. Milligan, and A. Forsyth. "Type 3 burning mouth syndrome: psychological and allergic aspects." Journal of Oral Pathology and Medicine 23, no. 5 (1994): 216–19. http://dx.doi.org/10.1111/j.1600-0714.1994.tb01116.x.

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35

Clementi, Anna, Grazia Maria Virzì, Alessandra Brocca, et al. "Advances in the Pathogenesis of Cardiorenal Syndrome Type 3." Oxidative Medicine and Cellular Longevity 2015 (2015): 1–8. http://dx.doi.org/10.1155/2015/148082.

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Cardiorenal syndrome (CRS) type 3 is a subclassification of the CRS whereby an episode of acute kidney injury (AKI) leads to the development of acute cardiac injury or dysfunction. In general, there is limited understanding of the pathophysiologic mechanisms involved in CRS type 3. An episode of AKI may have effects that depend on the severity and duration of AKI and that both directly and indirectly predispose to an acute cardiac event. Experimental data suggest that cardiac dysfunction may be related to immune system activation, inflammatory mediators release, oxidative stress, and cellular

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36

Shimomura, Hiroko, Yukiho Nakase, Hiroto Furuta, et al. "A rare case of autoimmune polyglandular syndrome type 3." Diabetes Research and Clinical Practice 61, no. 2 (2003): 103–8. http://dx.doi.org/10.1016/s0168-8227(03)00115-3.

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37

Ahmed, Saeed, Supawat Ratanapo, Saira Rashid, Wisit Cheungpasitporn, Edward F. Bischof, and Jesse P. Cone. "Syncope in Brugada syndrome type 3: an electrocardiographic lesson." American Journal of Emergency Medicine 31, no. 3 (2013): 621–22. http://dx.doi.org/10.1016/j.ajem.2012.11.016.

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38

Kassem Youssef, H., C. Ramstein, E. Ginglinger, F. Chouta Ngaha, H. Nojavan, and C. Michel. "Syndrome de Griscelli de type 3 : un nouveau cas." Annales de Dermatologie et de Vénéréologie 145, no. 12 (2018): 785–89. http://dx.doi.org/10.1016/j.annder.2018.07.030.

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39

Neres-Santos, Raquel Silva, Giovana Marchini Armentano, Jéssica Verônica da Silva, Carlos Alexandre Falconi, and Marcela Sorelli Carneiro-Ramos. "Progress and Challenges of Understanding Cardiorenal Syndrome Type 3." Reviews in Cardiovascular Medicine 24, no. 1 (2023): 8. http://dx.doi.org/10.31083/j.rcm2401008.

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40

Pérez-Riera, Andrés Ricardo, Raimundo Barbosa-Barros, Rodrigo Daminello Raimundo, Marianne Penachini da Costa de Rezende Barbosa, Isabel Cristina Esposito Sorpreso, and Luiz Carlos de Abreu. "The congenital long QT syndrome Type 3: An update." Indian Pacing and Electrophysiology Journal 18, no. 1 (2018): 25–35. http://dx.doi.org/10.1016/j.ipej.2017.10.011.

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41

Kumru, Pınar, Nurettin Aka, Gültekin Köse, Zeynep Tuzcular Vural, Önder Peker, and Hülya Kayserili. "Short Rib Polydactyly Syndrome Type 3 with Absence of Fibulae (Verma-Naumoff Syndrome)." Fetal Diagnosis and Therapy 20, no. 5 (2005): 410–14. http://dx.doi.org/10.1159/000086822.

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42

Taous, Abdellah, Taoufik Boubga, Maha Ait Berri, Jalal El benaye, Ali Zinebi, and Tarik Boulahri. "Neuropsychiatric Disorders Revealing Autoimmune Polyendocrine Syndrome Type 3: Case Report." Scholars Journal of Medical Case Reports 11, no. 10 (2023): 1781–83. http://dx.doi.org/10.36347/sjmcr.2023.v11i10.015.

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Multiple autoimmune syndrome is a rare pathological condition because it associates at least three different autoimmune diseases in the same patient. We discuss through this case and with a review of the literature MAS type 3 and its association with neuroanemic syndrome which remains exceptional. This is a 47-year-old patient, followed for vitiligo and a depressive syndrome, admitted for an ataxic gait lasting a month, in whom the neurological examination revealed a combined sclerosis syndrome of the spinal cord associated with a static cerebellar syndrome. Dermatological examination revealed

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43

Vinay, S. "P60 Family with type 1 Stickler syndrome." Indian Journal of Rheumatology 3, no. 3 (2008): S43. http://dx.doi.org/10.1016/s0973-3698(10)60504-3.

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44

Ozer Sensoy, Nur, Suleybe Elvan Zafer, Isa Kilic, Haydar Durak, Nizameddin Koca, and Yavuz Ayar. "Coexistence of Hemolytic Uremic Syndrome and Type 3 Cardiorenal Syndrome Due to Weil’s Disease." Turkish Journal of Nephrology 32, no. 2 (2023): 168–69. http://dx.doi.org/10.5152/turkjnephrol.2023.22154458.

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45

Patschan, Daniel, Benedikt Marahrens, Monique Jansch, Susann Patschan, and Oliver Ritter. "Experimental Cardiorenal Syndrome Type 3: What Is Known so Far?" Journal of Clinical Medicine Research 14, no. 1 (2022): 22–27. http://dx.doi.org/10.14740/jocmr4639.

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46

Tatu, A. "Multiple Autoimmune Syndrome type 3- Thyroiditis, Vitiligo and Alopecia Areata." Acta Endocrinologica (Bucharest) 13, no. 1 (2017): 124–25. http://dx.doi.org/10.4183/aeb.2017.124.

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47

Masuda, Saeko, Masahiro Mori, Shinsuke Hamada, Hiroki Masuda, Akiyuki Uzawa, and Satoshi Kuwabara. "Autoimmune polyendocrine syndrome type 3 in a multiple sclerosis patient." Clinical and Experimental Neuroimmunology 6, no. 3 (2015): 299–303. http://dx.doi.org/10.1111/cen3.12232.

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48

Chorin, Ehud, Rivki Taub, Aron Medina, Nir Flint, Sami Viskin, and Jesaia Benhorin. "Long-term flecainide therapy in type 3 long QT syndrome." EP Europace 20, no. 2 (2017): 370–76. http://dx.doi.org/10.1093/europace/euw439.

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49

Wilde, Arthur A. M., and Carol Ann Remme. "Therapeutic approaches for Long QT syndrome type 3: an update." EP Europace 20, no. 2 (2017): 222–24. http://dx.doi.org/10.1093/europace/eux039.

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50

Cornel, E., R. De Wit, and E. Van Haarst. "372Biofeedback physical therapy for chronic pelvic pain syndrome type 3." European Urology Supplements 4, no. 3 (2005): 95. http://dx.doi.org/10.1016/s1569-9056(05)80378-1.

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