换一批
换一批Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
作者：
Oliver,Schwartz [1]
;
Katharina,Vill [2]
;
Michelle,Pfaffenlehner [3]
;
Max,Behrens [4]
;
Claudia,Weiß [5]
;
Jessika,Johannsen [4]
;
Johannes,Friese [5]
;
Andreas,Hahn [6]
;
Andreas,Ziegler [7]
;
Sabine,Illsinger [8]
;
Martin,Smitka [9]
;
Arpad,von Moers [10]
;
Heike,Kölbel [11]
;
Gudrun,Schreiber [12]
;
Nadja,Kaiser [13]
;
Ekkehard,Wilichowski [14]
;
Marina,Flotats-Bastardas [15]
;
Ralf A,Husain [16]
;
Matthias,Baumann [17]
;
Cornelia,Köhler [18]
;
Regina,Trollmann [19]
;
Annette,Schwerin-Nagel [20]
;
Astrid,Eisenkölbl [21]
;
Mareike,Schimmel [22]
;
Martin,Fleger [23]
;
Birgit,Kauffmann [24]
;
Gert,Wiegand [25]
;
Manuela,Baumgartner [26]
;
Christian,Rauscher [27]
;
Sebahattin,Cirak [28]
;
Dieter,Gläser [29]
;
Günther,Bernert [30]
;
Tim,Hagenacker [31]
;
Susanne,Goldbach [32]
;
Kristina,Probst-Schendzielorz [33]
;
Hanns,Lochmüller [34]
;
Wolfgang,Müller-Felber [35]
;
Ulrike,Schara-Schmidt [35]
;
Maggie C,Walter [36]
;
Janbernd,Kirschner [37]
;
Astrid,Pechmann [2]
;
SMARTCARE study group [14]
作者单位：
Department of Pediatric Neurology, Münster University Hospital, Münster, Germany.
[1]
Department of Pediatric Neurology and Developmental Medicine and Ludwig Maximilians University Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, Ludwig Maximilians University Hospital, Ludwig Maximilians University, Munich, Germany.
[2]
Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
[3]
Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
[4]
Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.
[5]
Department of Pediatric Neurology and Center for Chronically Sick Children, Charité, University Medicine Berlin, Berlin, Germany.
[6]
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[7]
Department of Neuropediatrics, Faculty of Medicine, University Hospital Bonn, Bonn, Germany.
[8]
Department of Child Neurology, Justus-Liebig University, Giessen, Germany.
[9]
Department of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
[10]
Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
[11]
Abteilung Neuropaediatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
[12]
Department of Pediatrics und Neuropediatrics, Deutsches Rotes Kreuz Kliniken Berlin, Berlin, Germany.
[13]
Department of Neuropediatrics and Neuromuscular Centre for Cdhildren and Adolescents, Center for Translational Neuro and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.
[14]
Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.
[15]
Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.
[16]
Department of Paediatrics and Pediatric Neurology, University Medical Centre, Georg August University Göttingen, Göttingen, Germany.
[17]
Department of Pediatric Neurology, Saarland University Hospital, Homburg, Germany.
[18]
Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
[19]
Division of Pediatric Neurology, Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
[20]
St. Josef-Hospital, Universitätsklinik für Kinder- und Jugendmedizin, Abteilung für Neuropädiatrie und Sozialpädiatrie, Ruhr-Universität Bochum, Bochum, Germany.
[21]
Division of Pediatric Neurology, Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany.
[22]
Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
[23]
Department of Paediatrics and Adolescent Medicine, Kepler University Hospital, Johannes Kepler University Linz, Linz, Austria.
[24]
Pediatric Neurology, Pediatrics and Adolescent Medicine, University Medical Center Augsburg, Augsburg, Germany.
[25]
Department of Pediatrics, State Hospital of Bregenz, Bregenz, Austria.
[26]
Departement of Pediatric Neurology, Eltern-Kind-Zentrum Prof. Hess, Central Hospital Bremen, Bremen, Germany.
[27]
Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany.
[28]
Department of Pediatrics and Adolescent Medicine, Ordensklinikum Linz, Barmherzige Schwestern, Linz, Austria.
[29]
Department of Pediatrics and Adolescent Medicine, Private Medical University of Salzburg, Salzburg, Austria.
[30]
Division of Pediatric Neurology, Metabolics and Social Pediatrics, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm University, Ulm, Germany.
[31]
MVZ Genetikum GmbH, Center for Human Genetics, Neu-Ulm, Germany.
[32]
Department of Pediatrics, Clinic Favoriten, Vienna, Austria.
[33]
Department of Neurology, and Center for Translational Neuro and Behavioral Sciences, University Medicine Essen, Essen, Germany.
[34]
Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany.
[35]
Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital and Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
[36]
Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
[37]
Friedrich Baur Institute at the Department of Neurology, University Hospital, Ludwig Maximilians University, Munich, Munich, Germany.
[38]
主题词
人类(Humans);新生儿筛查(Neonatal Screening);婴儿, 新生(Infant, Newborn);女(雌)性(Female);男(雄)性(Male);婴儿(Infant);德国(Germany);登记(Registries);肌萎缩, 脊髓性(Muscular Atrophy, Spinal);试点项目(Pilot Projects);早期诊断(Early Diagnosis)
DOI
10.1001/jamapediatrics.2024.0492
PMID
38587854
发布时间
2024-07-17
- 浏览1
JAMA pediatrics
JAMA pediatrics
2024年178卷6期
540-547页
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