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Newborn screening and presymptomatic treatment of metachromatic leukodystrophy

In a pilot program in which 109,259 newborns were screened for metachromatic leukodystrophy, blood-spot samples were obtained for analysis and three newborns with MLD were identified, which made presymptomatic treatment possible.

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Bibliographic Details
Main Authors: Laugwitz, Lucia (Author) , Mechtler, Thomas P. (Author) , Janzen, Nils (Author) , Oliva, Petra (Author) , Kasper, Andrea-Romana (Author) , Teunissen, Charlotte E. (Author) , Bürger, Friederike (Author) , Janda, Joachim (Author) , Döring, Michaela (Author) , Weitz, Marcus (Author) , Lang, Peter (Author) , Martin, Pascal (Author) , Beck-Woedl, Stefanie (Author) , Chanson, Charlotte (Author) , Essing, Mirko Matthias (Author) , Shenker, Andrew (Author) , Haack, Tobias (Author) , Schulte, Johannes Hubertus (Author) , Rosewich, Hendrik (Author) , Streubel, Berthold (Author) , Kasper, David (Author) , Gröschel, Samuel (Author)
Format: Article (Journal)
Language:English
Published: September 18, 2024
In: The New England journal of medicine
Year: 2024, Volume: 391, Issue: 13, Pages: 1256-1258
ISSN:1533-4406
DOI:10.1056/NEJMc2407165
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1056/NEJMc2407165
Verlag, lizenzpflichtig, Volltext: https://www.nejm.org/doi/full/10.1056/NEJMc2407165
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Author Notes: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
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Summary:In a pilot program in which 109,259 newborns were screened for metachromatic leukodystrophy, blood-spot samples were obtained for analysis and three newborns with MLD were identified, which made presymptomatic treatment possible.
Item Description:Gesehen am 05.03.2025
Physical Description:Online Resource
ISSN:1533-4406
DOI:10.1056/NEJMc2407165

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