Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

被引：24

作者：

Aartsma-Rus, Annemieke ^{[1
]}

Hegde, Madhuri ^{[2
,3
,4
]}

Ben-Omran, Tawfeg ^{[5
]}

Buccella, Filippo ^{[6
]}

Ferlini, Alessandra ^{[7
]}

Gallano, Pia ^{[8
]}

Howell, R. Rodney ^{[9
]}

Leturcq, France ^{[10
]}

Martin, Ann S. ^{[11
]}

Potulska-Chromik, Anna ^{[12
]}

Saute, Jonas A. ^{[13
,14
,15
]}

Schmidt, Wolfgang M. ^{[16
]}

Sejersen, Thomas ^{[17
,18
]}

Tuffery-Giraud, Sylvie ^{[19
]}

Uyguner, Zehra Oya ^{[20
]}

Witcomb, Luci A. ^{[21
]}

Yau, Shu ^{[22
]}

Nelson, Stanley F. ^{[23
]}

机构：

[1] Leiden Univ, Dept Human Genet, Med Ctr, Leiden, Netherlands

[2] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA

[3] Georgia Inst Technol, Sch Biol Sci, Atlanta, GA 30332 USA

[4] Perkin Elmer Genet, Atlanta, GA USA

[5] Hamad Med Corp, Dept Pediat, Clin & Metab Genet, Doha, Qatar

[6] Duchenne Parent Project Italy, Rome, Italy

[7] Univ Ferrara, Unit Med Genet, Ferrara, Italy

[8] Hosp Santa Creu & Sant Pau, CIBERER U705, Serv Genet, Barcelona, Spain

[9] Univ Miami, Miller Sch Med, Miami, FL 33136 USA

[10] Cochin Hosp, Hosp Univ Paris Ctr, Dept Genet & Mol Biol, Paris, France

[11] Parent Project Muscular Dystrophy, Hackensack, NJ USA

[12] Med Univ Warsaw, Dept Neurol, Warsaw, Poland

[13] Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil

[14] Hosp Clin Porto Alegre, Neurol Serv, Porto Alegre, RS, Brazil

[15] Univ Fed Rio Grande do Sul, Dept Internal Med, Porto Alegre, RS, Brazil

[16] Med Univ Vienna, Dept Neuromuscular Res, Vienna, Austria

[17] Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden

[18] Karolinska Univ Hosp, Astrid Lindgrens Barnsjukhus, Stockholm, Sweden

[19] Univ Montpellier, Lab Rare Genet Dis LGMR, Montpellier, France

[20] Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey

[21] PharmaGenesis London, London, England

[22] Guys Hosp, Viapath Analyt, London, England

[23] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA

来源：

JOURNAL OF PEDIATRICS | 2019年 / 204卷

关键词：

LEFT-VENTRICULAR DYSFUNCTION; DE-NOVO MUTATION; DMD GENE; CARDIAC INVOLVEMENT; MEDICAL GENETICS; FEMALE CARRIERS; MESSENGER-RNA; DELETIONS; KNOWLEDGE; VARIANTS;

D O I：

10.1016/j.jpeds.2018.10.043

中图分类号：

R72 [儿科学];

学科分类号：

100202 [儿科学];

摘要：

引用

页码：305 / +

页数：23

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