Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

Kishnani Priya S.; Gibson James B.; Gambello Michael J.; Hillman Richard; Stockton David W.; Kronn David; Leslie Nancy D.; Pena Loren D. M.; Tanpaiboon Pranoot; Day John W.; Wang Raymond Y.; Goldstein Jennifer L.; Haack Kristina An; Sparks Susan E.; Zhao Yang; Hahn Si Houn

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

机译：提前基线数据集中的临床特征和基因型，综合群体群体和群众疾病的儿童和青少年

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Purpose: To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date.

机译：目的：在预先研究4000L-Scal alglucosidase Alfa（NCT01526785）中，表征患者的临床特征和基因型，最大的美国Pompe疾病队迄今为止。

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来源
《Genetics in medicine》 |2019年第11期|共9页
作者
Kishnani Priya S.; Gibson James B.; Gambello Michael J.; Hillman Richard; Stockton David W.; Kronn David; Leslie Nancy D.; Pena Loren D. M.; Tanpaiboon Pranoot; Day John W.; Wang Raymond Y.; Goldstein Jennifer L.; Haack Kristina An; Sparks Susan E.; Zhao Yang; Hahn Si Houn;
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作者单位

Duke Univ Med Ctr Durham NC 27708 USA;

Dell Childrens Med Grp Austin TX USA;

Emory Univ Sch Med Atlanta GA USA;

Univ Missouri Child Hlth Columbia MO USA;

Childrens Hosp Michigan Detroit MI 48201 USA;

New York Med Coll Valhalla NY 10595 USA;

Cincinnati Childrens Hosp Cincinnati OH USA;

Duke Univ Med Ctr Durham NC 27708 USA;

Childrens Natl Hlth Syst Washington DC USA;

Stanford Univ Stanford CA 94305 USA;

Childrens Hosp Orange Cty Orange CA 92668 USA;

Duke Univ Med Ctr Durham NC 27708 USA;

Sanofi Genzyme Cambridge MA USA;

Sanofi Genzyme Cambridge MA USA;

Sanofi Genzyme Cambridge MA USA;

Univ Washington Seattle Childrens Hosp Seattle WA 98195 USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
alglucosidase alfa; glycogenosis type 2; GAA pathogenic variants; infantile-onset Pompe disease (IOPD); late-onset Pompe disease (LOPD);

机译：alglucosidase Alfa;糖苷中的2型;Gaa病原变异;婴儿诊断Pompe疾病（IOPD）;晚期蓬松群病（LOPD）;

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专利

1. Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease [J] . Kishnani Priya S., Gibson James B., Gambello Michael J., Genetics in medicine . 2019,第11期

机译：提前基线数据集中的临床特征和基因型，综合群体群体和群众疾病的儿童和青少年
2. Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study [J] . Hahn Si Houn, Kronn David, Leslie Nancy D., Genetics in medicine . 2018,第10期

机译：alglucosidase Alfa的疗效，安全性曲线和免疫原性在美国儿童和青少年的4,000升规模中产生的，具有Pompe疾病：前进，第四阶段，开放标签，前瞻性研究
3. Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study Response [J] . Walker Clare-Louise Genetics in medicine . 2018,第10期

机译：在美国儿童和青少年的4,000升规模中产生的alglucosidase Alfa的疗效，安全性曲线和免疫原性，具有Pompe疾病：前进，第四阶段，开放标签，前瞻性研究反应
4. Methodological Advances Applied to a Biomarker Study of Complex Samples from a Diseased Clinical Cohort of Limited Sample Availability [C] . Stephen A. Kostel, Patricia S. Cho, Hui Zhou, ASMS Conference on Mass Spectrometry and Allied Topics . 2016

机译：从有限的样品可用性的患病临床队列中施加对复杂样品的生物标志物研究的方法研究
5. Characteristics and trends in North American snowfall from a comprehensive gridded data set [D] . Kluver, Daria B. 2007

机译：来自全面网格数据集的北美降雪的特征和趋势
6. Depression and cardiovascular diseases among Canadian older adults: a cross-sectional analysis of baseline data from the CLSA Comprehensive Cohort [O] . Jian Liu, Surim Son, John Mcintyre, 2019

机译：加拿大老年人的抑郁症和心血管疾病：来自CLSA综合队列的基线数据的横断面分析
7. Baseline characteristics, management, and outcomes of 55,270 children and adolescents diagnosed with COVID-19 and 1,952,693 with influenza in France, Germany, Spain, South Korea and the United States: an international network cohort study [O] . Talita Duarte-Salles, David Vizcaya, Andrea Pistillo, 2020

机译：55,270名儿童和青少年的基线特征，管理和结果为Covid-19和1,952,693，在法国，德国，西班牙，韩国和美国的流感：国际网络队列研究

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

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