195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14-16th December, 2012, Naarden, The Netherlands

被引：52
作者：
Ellis, Juliet A. [1 ,2 ]
Vroom, Elizabeth
Muntoni, Francesco [1 ]
机构：
[1] UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
[2] Kings Coll London, Randall Div Cell & Mol Biophys, London SE1 1UL, England
来源：
NEUROMUSCULAR DISORDERS | 2013年 / 23卷 / 08期
关键词：
IMPACT; VENTILATION; ATTITUDES; SURVIVAL; BOYS; CARE;
D O I：
10.1016/j.nmd.2013.05.008
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：682 / 689
页数：8
相关论文
共 44 条
[1]   Pediatricians' attitudes toward expanding newborn screening [J].
Acharya, K ;
Ackerman, PD ;
Ross, LF .
PEDIATRICS, 2005, 116 (04) :E476-E482
[2]   Guiding Policy Decisions for Genetic Screening: Developing a Systematic and Transparent Approach [J].
Andermann, A. ;
Blancquaert, I. ;
Beauchamp, S. ;
Costea, I. .
PUBLIC HEALTH GENOMICS, 2011, 14 (01) :9-16
[3]   Revisiting Wilson and Jungner in the genomic age:: a review of screening criteria over the past 40 years [J].
Andermann, Anne ;
Blancquaert, Ingeborg ;
Beauchamp, Sylvie ;
Dery, Veronique .
BULLETIN OF THE WORLD HEALTH ORGANIZATION, 2008, 86 (04) :317-319
[4]   UPTAKE OF CYSTIC-FIBROSIS TESTING IN PRIMARY-CARE - SUPPLY PUSH OR DEMAND PULL [J].
BEKKER, H ;
MODELL, M ;
DENNISS, G ;
SILVER, A ;
MATHEW, C ;
BOBROW, M ;
MARTEAU, T .
BRITISH MEDICAL JOURNAL, 1993, 306 (6892) :1584-1586
[5]   Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 - From screening laboratory results to treatment, follow-up and quality assurance [J].
Burgard, Peter ;
Rupp, Kathrin ;
Lindner, Martin ;
Haege, Gisela ;
Rigter, Tessel ;
Weinreich, Stephanie S. ;
Loeber, J. Gerard ;
Taruscio, Domenica ;
Vittozzi, Luciano ;
Cornel, Martina C. ;
Hoffmann, Georg F. .
JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 (04) :613-625
[6]  
Bushby Kate, 2011, Clin Investig (Lond), V1, P1217
[7]   Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care [J].
Bushby, Katharine ;
Finkel, Richard ;
Birnkrant, David J. ;
Case, Laura E. ;
Clemens, Paula R. ;
Cripe, Linda ;
Kaul, Ajay ;
Kinnett, Kathi ;
McDonald, Craig ;
Pandya, Shree ;
Poysky, James ;
Shapiro, Frederic ;
Tomezsko, Jean ;
Constantin, Carolyn .
LANCET NEUROLOGY, 2010, 9 (02) :177-189
[8]   Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management [J].
Bushby, Katharine ;
Finkel, Richard ;
Birnkrant, David J. ;
Case, Laura E. ;
Clemens, Paula R. ;
Cripe, Linda ;
Kaul, Ajay ;
Kinnett, Kathi ;
McDonald, Craig ;
Pandya, Shree ;
Poysky, James ;
Shapiro, Frederic ;
Tomezsko, Jean ;
Constantin, Carolyn .
LANCET NEUROLOGY, 2010, 9 (01) :77-93
[9]   Parental attitudes regarding newborn screening of PKU and DMD [J].
Campbell, E ;
Ross, LF .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 120A (02) :209-214
[10]   Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) [J].
Ciafaloni, Emma ;
Fox, Deborah J. ;
Pandya, Shree ;
Westfield, Christina P. ;
Puzhankara, Soman ;
Romitti, Paul A. ;
Mathews, Katherine D. ;
Miller, Timothy M. ;
Matthews, Dennis J. ;
Miller, Lisa A. ;
Cunniff, Christopher ;
Druschel, Charlotte M. ;
Moxley, Richard T. .
JOURNAL OF PEDIATRICS, 2009, 155 (03) :380-385
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