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Gaucher’s Disease: a rare disease with an unusual presentation

机译：高雪氏病：一种罕见的疾病，表现异常

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《Journal of Diagnostic Pathology ~ College of Pathologists of Sri Lanka》 |2014年第1期|共页
作者
A A H Priyani;
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中图分类病理学;
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1. Gaucher’s Disease: a rare disease with an unusual presentation [J] . A A H Priyani Journal of Diagnostic Pathology ~ College of Pathologists of Sri Lanka . 2014,第1期

机译：高雪氏病：一种罕见的疾病，表现异常
2. Gaucher's disease: Rare presentation of a rare disease [J] . ShresthaB., DevganA., SharmaM. Journal of child neurology . 2013,第10期

机译：高雪氏病：罕见疾病的罕见表现
3. Transformation in pre-treatment presentations of Gaucher disease during the first two decades of imiglucerase enzyme replacement therapy: a report from the International Collaborative Gaucher Group Gaucher Registry [J] . Weinreb Neal J., Batista Julie, Andersson Hans C., Molecular genetics and metabolism . 2017,第1a2期

机译：转型在Imiglucerase酶替代治疗的前二十年内进行治疗前的Gaucher病术：来自国际合作Gaucher Group Gaucher登记处的报告
4. Unusual neurological diseases in ruminants: video presentations and discussion [C] . Christine Berthelin-Baker, T Konold, M Simmons, Annual Veterinary Medical Forum . 2000

机译：反刍动物的异常神经疾病：视频演示和讨论
5. Rare, but Significant: Identifying Challenges in the Rare Disease Community and Teaching High School Students about Rare Diseases [D] . Su, Julia 2012

机译：稀有但重要：识别稀有疾病社区中的挑战并向高中生讲授稀有疾病
6. Unusual presentation of more common disease/injury: A rare and unusual presentation of urological infection on a patient on steroids [O] . Tsong Kwong, Charles Coker, Emma Simpson 2012

机译：不常见的更常见疾病/伤害的表现：类固醇激素对患者的泌尿科感染的罕见和不寻常表现
7. An Unusual Presentation of Gaucher’s Disease: Aortic Valve Fibrosis in a Patient Homozygous for a Rare G377S Mutation [O] . Perić Zinaida, Kardum-Skelin Ika, Jelić Puškarić Biljana, 2010

机译：高雪氏病的不寻常表现：纯合子患者中罕见的G377S突变导致主动脉瓣纤维化

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