Farber disease: design of the first observational and cross-sectional cohort study capturing retrospective and prospective data on the natural history and phenotypic spectrum of patients, including novel methodologies for assessment of disease-specific symptoms

被引：2
|
作者：
Solyom, Alexander [1 ]
Mitchell, John [2 ]
Beck, Michael [3 ]
Huegle, Boris [4 ]
Schuchman, Edward H. [5 ]
机构：
[1] Enzyvant Sci, New York, NY USA
[2] Montreal Childrens Hosp, Montreal, PQ, Canada
[3] Johannes Gutenberg Univ Mainz, Mainz, Germany
[4] German Ctr Pediat Rheumatol, Garmisch Partenkirchen, Germany
[5] Ichan Sch Med Mt Sinai, New York, NY USA
来源：
MOLECULAR GENETICS AND METABOLISM | 2017年 / 120卷 / 1-2期
关键词：
D O I：
10.1016/j.ymgme.2016.11.326
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
317
引用
收藏
页码：S125 / S125
页数：1
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