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Eponymous syndromes 

Eponymous syndromes
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date: 23 October 2019

Chapter 10: Eponymous syndromes

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8 eMedicine. Chediak-Higashi syndrome http://emedicine.medscape.com/article/1114607-overview

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17 Vörös V et al. Clonal pluralization of the self’: a new form of delusional misidentification syndrome. Psychopathology 2003; 36(1):46–8. PubMed ID: 12679592 http://www.ncbi.nlm.nih.gov/pubmed/12679592Find this resource:

18 Patient.co.uk. Di-Guglielmo’s-syndrome http://www.patient.co.uk/doctor/Di-Guglielmo’s-Syndrome.htm

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20 Sarepta Therapeutics. Efficacy study of AVI-4658 to induce dystrophin expression in selected Duchenne muscular dystrophy patients. http://clinicaltrials.gov/ct2/show/study/NCT01396239

21 eMedicine. Trisomy 18 http://emedicine.medscape.com/article/943463-overview#a0101

22 Hakim A et al. (eds) Ehlers-Danlos syndrome. In Oxford handbook of rheumatology, 3rd ed. Oxford: Oxford University Press; 2011, 468–9Find this resource:

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24 eMedicine. Ganser syndrome http://emedicine.medscape.com/article/287390-overview

25 eMedicine. Gaucher disease http://emedicine.medscape.com/article/944157

26 eMedicine. Hartnup disease http://emedicine.medscape.com/article/1115549-overview

27 eMedicine. Genetics of mucopolysaccharidosis type II http://emedicine.medscape.com/article/944723-overview

28 eMedicine. Genetics of mucopolysaccharidosis type I http://emedicine.medscape.com/article/1599374-overview

29 eMedicine. Karteagener syndrome http://emedicine.medscape.com/article/299299-overview

30 Oates-Whitehead RM et al. Intravenous immunoglobulin for the treatment of Kawasaki disease in children. Cochrane Database Syst Rev 2003; 4:CD004000. PubMed ID: 14584002 http://www.ncbi.nlm.nih.gov/pubmed/14584002Find this resource:

31 Kobayashi T et al. Efficacy of intravenous immunoglobulin combined with prednisolone following resistance to initial intravenous immunoglobulin treatment of acute Kawasaki disease. J Pediatr 2013; 163(2):521–6. PMID: 23485027; http://www.ncbi.nlm.nih.gov/pubmed/23485027Find this resource:

32 AHA Scientific Statement. Diagnostic Guidelines for Kawasaki Disease. Council on Cardiovascular Disease in the Young Committee on Rheumatic Fever Endocarditis and Kawasaki Disease American Heart Association. Circulation 2001; 103:335–6 http://circ.ahajournals.org/content/103/2/335.fullFind this resource:

33 Klopstock T et al. A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy. Brain 2011; 134(Pt 9):2677–86. PubMed ID: 21788663 http://www.ncbi.nlm.nih.gov/m/pubmed/21788663Find this resource:

34 Deon LL et al. Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report. J Child Neurol 2012; 27(1):117–20. PubMed ID: 21940691 http://www.ncbi.nlm.nih.gov/pubmed/21940691Find this resource:

35 Khotianov N. Lewy body dementia: case report and discussion. J Am Board Fam Pract 2002; 15(1):50–4. PubMed ID: 11841138 http://www.ncbi.nlm.nih.gov/pubmed/11841138Find this resource:

36 Leigh MJ et al. A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J Dev Behav Pediatr 2013; 34(3):147–55. PMID: 23572165. http://www.ncbi.nlm.nih.gov/pubmed/23572165Find this resource:

37 PMID: 21721045. Biomarkers in dementia with Lewy bodies: a review. Int J Geriatr Psychiatry 2012; 27(5):443–53. PubMed ID: 21721045 http://www.ncbi.nlm.nih.gov/pubmed/21721045Find this resource:

38 Lynch HT et al. Hereditary breast cancer: part I. Diagnosing hereditary breast cancer syndromes. Breast J 2008; 14(1):3–13. PubMed ID: 18086272 http://pubmedhh.nlm.nih.gov/cgi-bin/abstract.cgi?id=18086272&from=cqsrFind this resource:

39 Malkin D. Li-Fraumeni syndrome. Genes Cancer 2011; 2(4):475484. PubMed ID: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135649/?tool=pubmedFind this resource:

40 da Silva EM et al. TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child: evidence for chimerism involving a common mutant founder haplotype: case report. BMC Cancer 2011; 11:449. http://www.ncbi.nlm.nih.gov/m/pubmed/22004116/?i=6&from=Li%E2%80%93FraumeniFind this resource:

41 eMedicine. Sphingomyelinase deficiency http://emedicine.medscape.com/article/951564-overview

42 eMedicine. Noonan syndrome http://emedicine.medscape.com/article/947504-overview

43 Chrichton P. Did Othello have ‘the Othello Syndrome’? J Forensic Psychiatry 1996; 7;1:161–9 http://www.tandfonline.com/doi/abs/10.1080/09585189608409924#.UuGJpdJFDUIFind this resource:

44 eMedicine. Patau syndrome http://www.emedicine.com/ped/topic1745.htm

45 Szwajkun P et al. The “Taiwanese giant“: hormonal and genetic influences in fibrous dysplasia. Ann Plast Surg 1998; 41(1):75–80. PubMed ID: 9678473 http://www.ncbi.nlm.nih.gov/pubmed/9678473Find this resource:

46 eMedicine. McCune-Albright syndrome http://emedicine.medscape.com/article/127233-overview

47 Smeets Eej et al. Rett syndrome. Mol Syndromol 2012; 2(3–5): 113–27. PMC3366703 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366703/Find this resource:

48 eMedicine. Reye syndrome http://emedicine.medscape.com/article/803683-overview

49 Kim H et al. Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations. Korean J Pediatr 2011; 54(11):473–6. PubMed ID: 22253645 http://www.ncbi.nlm.nih.gov/pubmed/22253645Find this resource:

50 Adams J. Imprinting and genetic disease: Angelman, Prader-Willi and Beckwith-Weidemann syndromes. Nat Educ 2008; 1(1):129 http://www.nature.com/scitable/topicpage/imprinting-and-genetic-disease-angelman-prader-willi-923Find this resource:

51 eMedicine. JIA clinical presentation http://emedicine.medscape.com/article/1007276-clinical#aw2aab6b3b3aa

52 NICE. NICE guidance on biologic drugs for the treatment of juvenile idiopathic arthritis (February 2012) http://www.nice.org.uk/media/773/9E/JIA8WithTocilizumab.pdf

53 Cardoso F. Sydenham’s chorea. Handb Clin Neurol 2011; 100:221–9. PubMed ID: 21496581 http://www.ncbi.nlm.nih.gov/pubmed/21496581Find this resource:

54 PatientPlus patient.co.uk. Turner Syndrome http://www.patient.co.uk/doctor/Turner’s-Syndrome.htm#ref-2

55 Froissart R et al. Glucose-6-phosphatase deficiency. Orphanet J Rare Dis 2011; 6:27. PMID 21599942 http://www.ncbi.nlm.nih.gov/pubmed/21599942Find this resource:

56 eMedicine. Werner syndrome http://emedicine.medscape.com/article/1114125-overview