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| 1 | Late onset fulminant Wilson's disease:A case report and review of the literature显示文摘Wilson’s disease(WD)is an autosomal recessive inherited disorder of hepatic copper metabolism.WD can be present in different clinical conditions,with the most common ones being liver disease and neuropsychiatric disturbances.Most cases present symptoms at<40years of age.However,few reports exist in the literature on patients in whom the disease presented beyond this age.In this report,we present a case of late onset fulminant WD in a 58-year-old patient in whom the diagnosis was established clinically,by genetic analysis of the ATP7B gene disclosing rare mutations(G1099S and c.1707+3ins T)as well as by high hepatic copper content.We also reviewed the relevant literature.The diagnosis of WD with late onset presentation is easily overlooked.The diagnostic features and the geneticbackground in patients with late onset WD are not different from those in patients with early onset WD,except for the age.Effective treatments for this disorder that can be fatal are available and will prevent or reverse many manifestations if the disease is discovered early. | Ella Weitzman Orit Pappo Peretz Weiss Moshe Frydman Yael Haviv-Yadid Ziv Ben Ari | 2014 | World Journal of Gastroenterology2014，20，46： | 2 |
| 2 | Transduction with recombinant adeno-associated virus for gene therapy is limited by leading-strand synthesis显示文摘 | Fisher K J Gao GP Weitzman MD | 1996 | J Virol1996，70，1： | 1 |
| 3 | Gene therapy: twenty, first century medicine 显示文摘 | Verrna IM Weitzman MD | 2005 | Annu Rev Biochem2005，74，： | 1 |
| 4 | Prenatal and posmatal environmental tobacco smoke exposure and children's health 显示文摘 | DiFranza JR Aligne CA Weitzman M | 2004 | Pediatrics2004，113，14： | 1 |
| 5 | Chronic conditions,socioeconomic risks, and be-havioral problems in children and adolescents显示文摘 | 1,Gortmaker SL Walker DK Weitzman M | 1990 | Pediatrics1990，85，： | 1 |
| 6 | The mitochondria regulated death pathway mediates asbestos-induced alveolar epithelial cell apoptosis 显示文摘 | Panduri V Weitzman SA Chandel N | 2003 | Am J Respir Cell Mol Biol2003，28，2： | 1 |
| 7 | Antineutrophil autoantibodies in Graves' disease, Implications of thyropin binding to neutrophils 显示文摘 | Weitzman SA Stossel TP Harmon DC | 1985 | Clin Invest1985，75，1： | 1 |
| 8 | Gene therapy:twenty-first century medicine 显示文摘 | VERMA I M WEITZMAN M D | 2005 | Annu Rev Biochem2005，74，： | 1 |
| 9 | Primary and secondary hemophagocytic lympho- histiocytosis: clinical features, pathogenesis and therapy 显示文摘 | Gupta S Weitzman S | 2010 | Expert Rev Clin Immunol2010，6，1： | 1 |
| 10 | Steady State Unemployment Under Profit Sharing显示文摘 | Weitzman Martinl L | | 0，，： | 1 |
| 11 | A study of rituximab and ifosfamide,carboplatin,and etoposide chemotherapy in children with recurrent/refractory B-cell (CD20 +) non-Hodgkin lymphoma and mature B-cell acute lymphoblastic leukemia:a report from the Children's Oncology Group显示文摘 | Griffin TC Weitzman S Weinstein H | 2009 | Pediatr Blood Cancer2009，52，： | 1 |
| 12 | Hemangiolymphangioma of spleen and bone 显示文摘 | Sammis A J Weitzman S Arcomano JP | 1971 | N Y State J Med1971，71，14： | 1 |
| 13 | Prevalence of a metabolic syndrome phenotype in adolescents: findings from the third national health and nutrition examination survey, 1988-1994显示文摘 | Cook S Weitzman M Auinger P | 2003 | Archives of Pediatrics Adolescent Medicine2003，157，： | 1 |
| 14 | Maternal smoking and childhood asthma显示文摘 | Weitzman M Cortmaker S Klein Walker D | 1990 | Pediatrics1990，85，： | 1 |
| 15 | Prevalence of a metabolic syn- drome phenotype in adolescents:findings from the third National Health and Nutrition Examination Survey, 1988-199d显示文摘 | Cook S Weitzman M Auinger P | 2003 | Arch Pediatr Adolesc Med2003，157，8： | 1 |
| 16 | Simultaneous treatment of tibial bone and soft-tissue defects with the Ilizarov method显示文摘 | Robert Rozbruch S Weitzman AM Tracey Watson J | 2006 | J Orthop Trauma2006，20，： | 1 |
| 17 | Langerhans cell histiocytosis:update for the pediatrician显示文摘 | Weitzman S Egeler RM | | 0，，01： | 1 |
| 18 | Prevalence of a metabolic syndrome phenotype in adolescents: findings from the third National Health and Nutrition Examination Survey, 1988 - 1994 显示文摘 | Cook S Weitzman M Auinger P | 2003 | Arch Pediatr Adolesc Med2003，157，8： | 1 |
| 19 | Periodic mevements in sleep(nocturnal myoclonus):relation to sleep disorders显示文摘 | Coleman RM Pollak CP Weitzman ED | 1980 | Ann Neural1980，8，： | 1 |
| 20 | The mitochondriaregulated death pathway mediates asbestos-induced alveolar epithelial cell apoptosis显示文摘 | Panduri V Weitzman SA Chandel N | 2003 | Am J Respir Cell Mol Biol2003，28，： | 1 |
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