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

Solyom Alexander; Mitchell John; Beck Michael; Huegle Boris; Schuchman Edward H.

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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

机译：FARBER疾病：第一个观察和横断面队列的设计捕获患者自然历史和表型谱的追溯和前瞻性数据，包括评估疾病特异性症状的新方法

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《Molecular genetics and metabolism》 |2017年第2期|共1页
作者
Solyom Alexander; Mitchell John; Beck Michael; Huegle Boris; Schuchman Edward H.;
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作者单位

Enzyvant Sci New York NY USA;

Montreal Childrens Hosp Montreal PQ Canada;

Johannes Gutenberg Univ Mainz Mainz Germany;

German Ctr Pediat Rheumatol Garmisch Partenkirchen Germany;

Ichan Sch Med Mt Sinai New York NY USA;

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正文语种 eng
中图分类内分泌腺疾病及代谢病;
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1. 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 [J] . Solyom Alexander, Mitchell John, Beck Michael, Molecular genetics and metabolism . 2017,第1a2期

机译：FARBER疾病：第一个观察和横断面队列的设计捕获患者自然历史和表型谱的追溯和前瞻性数据，包括评估疾病特异性症状的新方法
2. The natural history of depressive symptoms in patients with incident Parkinson’s disease: a prospective cohort study [J] . Jan Petter Larsen, Ingvild Dalen, Kenn Freddy Pedersen, Journal of neurology . 2017,第12期

机译：事故帕金森病患者抑郁症状的自然历史：一项预期队列研究
3. Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients [J] . Solyom Alexander, Mitchell John, Ehlert Karoline, Molecular genetics and metabolism . 2016,第2期

机译：法伯病的特征是典型特征，但表型范围广：从37例患者中选择信息
4. The formation and design of the Acute Admission Database- a database including a prospective observational cohort of 6279 patients triaged in the emergency department in a larger Danish hospital [O] . Charlotte Barfod, Marlene Mauson Pankoke Lauritzen, Jakob Klim Danker, 2012

机译：急性入院数据库的形成和设计-该数据库包括在丹麦一家较大医院的急诊室分诊的6279名患者的前瞻性观察性队列
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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

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