Article (Scientific journals)
244th ENMC International Workshop: Newborn screening in Spinal Muscular Atrophy May 10-12, 2019, Hoofdorp, The Netherlands
Dangouloff, Tamara; Burghes, Arthur; Bertini, Enrico et al.
2020In Neuromuscular Disorders, 30 (1), p. 93-103
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Keywords :
Newborn -Screening; Spinal Muscular atrophy; pre-symptomatic
Abstract :
[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
Disciplines :
Author, co-author :
Dangouloff, Tamara  ;  Université de Liège - ULiège > Département des sciences cliniques > Neuropédiatrie
Burghes, Arthur;  Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA
Bertini, Enrico;  Bambino Gesù Children's Hospital, Rome, Italie
BOEMER, François  ;  Centre Hospitalier Universitaire de Liège - CHU > Unilab > Laboratoire Biochimie Génétique
Hiligsmann, Mickaël ;  Maastricht University, The Netherlands > Département des sciences de la santé publique > CAPHRI Care and Public Health Research Institute
Mueller-Felber, Wolfgang;  Dr. v. Hauner Children's Hospital, Ludwig-Maximilian University of Munich, Munich, Germany
Tiziano, Franceso Danilo;  Catholic University of sacred Heart, Rome, Italy
Young, Philip;  School of Life Sciences, University of Warwick, Coventry, UK
Germanenko, Olga;  Patient Advocacy Group, SMA Family Russia
De Lemus, Mencia;  Patient Advocacy Group, FundAME and SMA Europe
Ouillade, Laetitia;  Patient Advocacy Group, AFM Telethon
Rucinski, Kacper;  Patient Advocacy Group, SMA Foundation Poland
Stephenson, Kristin;  Muscular Dystrophy Association, Washington, DC, USA
Farwell, Wildon;  Biogen, Boston, MA, USA
Gorni, Ksenija;  F. Hoffmann-La Roche Ltd - Roche
Hjort, Mikael;  PerkinElmer Finland
Kausar, Imran;  Avexis, Novartis, Bannockburn , USA
Tizzano, Eduardo F;  Department of Clinical and Molecular Genetics, University Hospital Valle Hebron, Medicine Genetics Group VHIR, Pso. Vall d’ Hebron, Barcelona, Spain
Servais, Laurent ;  Centre Hospitalier Universitaire de Liège - CHU > Département de Pédiatrie > Service de pédiatrie
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Title :
244th ENMC International Workshop: Newborn screening in Spinal Muscular Atrophy May 10-12, 2019, Hoofdorp, The Netherlands
Publication date :
January 2020
Journal title :
Neuromuscular Disorders
Publisher :
Elsevier, Netherlands
Volume :
Issue :
Pages :
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Epub 2019 Nov 9.
Available on ORBi :
since 06 January 2020


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