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.
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
September 18, 2024
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| In: |
The New England journal of medicine
Year: 2024, Jahrgang: 391, Heft: 13, Pages: 1256-1258 |
| ISSN: | 1533-4406 |
| DOI: | 10.1056/NEJMc2407165 |
| Online-Zugang: | 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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| Verfasserangaben: | 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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| 520 | |a 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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