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Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy

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Year: 2024
Type: article
Source: New England Journal of Medicine
DOI: 10.1056/nejmc2407165
Authors: Lucia Laugwitz, Thomas P. Mechtler, Nils Janzen, Petra Oliva, Andrea-Romana Kasper, Charlotte E. Teunissen, Friederike Bürger, Joachim Janda, Michaela Döring, Marcus Weitz, Peter Lang, Pascal Martin, Stefanie Beck-Woedl, Charlotte Chanson, Mirko M. Essing, Andrew Shenker, Tobias B. Haack, Johannes H. Schulte, Hendrik Rosewich, Berthold Streubel, David C. Kasper, Samuel Groeschel
Institutions: Universitätsklinikum Tübingen, Medizinische Hochschule Hannover, Medical University of Vienna, Vrije Universiteit Amsterdam, Heidelberg University, Orchard Therapeutics (United Kingdom)
Language: English

Topic: Lysosomal Storage Disorders Research
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: Deutsche Forschungsgemeinschaft, Orchard Therapeutics
Award: Die Charakterisierung von Krankheitsprogression und therapeutischer Intervention bei Metachromatischer Leukodystrophie
OpenAlex ID: W4402590764
FWCI: 11.33
Cites: 4
Cited by: 32
Related to: 10
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