Reference : 244th ENMC International Workshop: Newborn screening in Spinal Muscular Atrophy May 1...
Scientific journals : Article
Human health sciences : Neurology
http://hdl.handle.net/2268/242772
244th ENMC International Workshop: Newborn screening in Spinal Muscular Atrophy May 10-12, 2019, Hoofdorp, The Netherlands
English
Dangouloff, Tamara mailto [Université de Liège - ULiège > Département des sciences cliniques > Neuropédiatrie >]
Burghes, Arthur mailto [Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA > > > >]
Bertini, Enrico mailto [Bambino Gesù Children's Hospital, Rome, Italie > > > >]
BOEMER, François mailto [Centre Hospitalier Universitaire de Liège - CHU > Unilab > Laboratoire Biochimie Génétique >]
Hiligsmann, Mickaël mailto [Maastricht University, The Netherlands > Département des sciences de la santé publique > CAPHRI Care and Public Health Research Institute > >]
Mueller-Felber, Wolfgang mailto [Dr. v. Hauner Children's Hospital, Ludwig-Maximilian University of Munich, Munich, Germany > > > > >]
Tiziano, Franceso Danilo mailto [Catholic University of sacred Heart, Rome, Italy > > > >]
Young, Philip mailto [School of Life Sciences, University of Warwick, Coventry, UK > > > > >]
Germanenko, Olga mailto [Patient Advocacy Group, SMA Family Russia > > > > >]
De Lemus, Mencia mailto [Patient Advocacy Group, FundAME and SMA Europe > > > >]
Ouillade, Laetitia mailto [Patient Advocacy Group, AFM Telethon > > > > >]
Rucinski, Kacper mailto [Patient Advocacy Group, SMA Foundation Poland > > > > >]
Stephenson, Kristin mailto [Muscular Dystrophy Association, Washington, DC, USA > > > >]
Farwell, Wildon mailto [Biogen, Boston, MA, USA > > > >]
Gorni, Ksenija mailto [F. Hoffmann-La Roche Ltd - Roche > > > >]
Hjort, Mikael mailto [PerkinElmer Finland > > > >]
Kausar, Imran mailto [Avexis, Novartis, Bannockburn , USA > > > >]
Tizzano, Eduardo F mailto [Department of Clinical and Molecular Genetics, University Hospital Valle Hebron, Medicine Genetics Group VHIR, Pso. Vall d’ Hebron, Barcelona, Spain > > > > >]
Servais, Laurent mailto [Centre Hospitalier Universitaire de Liège - CHU > Département de Pédiatrie > Service de pédiatrie >]
9-Nov-2019
Neuromuscular Disorders
Elsevier
Yes (verified by ORBi)
International
0960-8966
1873-2364
Netherlands
[en] Newborn -Screening ; Spinal Muscular atrophy ; pre-symptomatic
[en] •Efficacy of new treatments in SMA is better in pre than in post-symptomatic patients
•NBS is complementary of carriers screening, with different false negatives
•Pilot projects of SMA NBS have started or are planned to start in several countries
•Questions remain on SMN2 quantification and management of patients with 4 copies
•We propose a strategy to launch an evidence-based approach for these patients
Researchers ; Professionals ; Students
http://hdl.handle.net/2268/242772
10.1016/j.nmd.2019.11.002

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