机译:在GAUCHER病中呈现迹象和患者共变量:GAUCHER早期诊断共识(GED-C)DELPHI倡议的结果
UCL Med Sch Royal Free Hosp Dept Haematol Lysosomal Storage Disorders Unit London England;
Harvard Med Sch Ctr Hematol Massachusetts Gen Hosp Boston MA 02115 USA;
Univ Hertfordshire Sch Life &
Med Sci Hatfield Herts England;
Univ Hosp Paris Nord Val Seine Referral Ctr Lysosomal Dis Site Beaujon Paris France;
Acad Med Ctr Hosp Udine Ctr Rare Dis Udine Italy;
Oxford PharmaGenesis Ltd Res Evaluat Unit Oxford England;
Heinrich Heine Univ Dept Gastroenterol Hepatol &
Infect Dis Dusseldorf Germany;
Bambino Gesu Pediat Hosp Dept Pediat Specialist Div Metab IRCCS Rome Italy;
IRCCS Giannina Gaslini Inst Dept Pediat Unit Rare Dis Genoa Italy;
O &
O Alpan LLC Lysosomal Disorders Unit Fairfax Richmond VA USA;
UCL Med Sch Royal Free Hosp Dept Haematol Lysosomal Storage Disorders Unit London England;
Natl Res Ctr Hematol Dept Orphan Dis Moscow Russia;
Univ Rzeszow Med Fac Rzeszow Poland;
Johannes Gutenberg Univ Mainz Univ Med Ctr Villa Metabol Ctr Pediat &
Adolescent Med Mainz;
Jaslok Hosp &
Res Ctr Dept Gastroenterol Mumbai Maharashtra India;
Kumamoto Univ Grad Sch Med Sci Dept Pediat Kumamoto Japan;
Tottori Univ Fac Med Dept Child Neurol Yonago Tottori Japan;
UBA CONICET Inst Immunol Genet &
Metab INIGEM Osteoporosis &
Metab Bone Dis Lab Buenos Aires;
Univ Coll Dublin Mater Misericordiae Univ Hosp Dublin Ireland;
Hosp Valle De Hebron Unit Rare Dis Barcelona Spain;
UCL Med Sch Royal Free Hosp Dept Haematol Lysosomal Storage Disorders Unit London England;
Univ Fed Rio Grande do Sul Med Genet Serv HCPA Genet Dept Porto Alegre RS Brazil;
Royal Melbourne Hosp Dept Clin Haematol Bone Marrow Transplant Serv Victoria Australia;
Univ Miami Miller Sch Med Dept Human Genet &
Med Hematol Uhlth Sylvester Coral Springs Coral;
Shaare Zedek Med Ctr Jerusalem Israel;
lysosomal storage disease; metabolism; inborn error; splenomegaly; thrombocytopenia; algorithm;
机译:在GAUCHER病中呈现迹象和患者共变量:GAUCHER早期诊断共识(GED-C)DELPHI倡议的结果
机译:全球Delphi共识倡议,促进1型和3型Gaucher病的早期诊断:什么是表型共性?
机译:全球Delphi共识倡议,促进1型和3型Gaucher病的早期诊断:什么是表型共性?
机译:FT-ICR MS谱分析来自Gaucher病患者获得的血浆衍生的小分子
机译:患者对高彻病携带者中帕金森氏病风险增加的遗传咨询意见
机译:Gaucher早期的诊断协商点评分系统(GED-C PSS):评估芬兰Gaucher病患者的原型和筛选回顾性电子健康记录数据的可行性以识别芬兰潜在未认识的患者
机译:展示Gaucher病的迹象和患者共变量:Gaucher早期诊断共识(GED-C)Delphi倡议的结果