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Neugeborenen-Screening auf angeborene Stoffwechselstörungen, Endokrinopathien, schwere kombinierte Immundefekte (SCID), Sichelzellkrankheit, 5q-assoziierte spinale Muskelatrophie (SMA) und Mukoviszidose. S2k-LL (GNPI)

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Collection
Guidelines International Network
MeSH Terms

Infant; Newborn (M01.060.703.520); Infant; Newborn; Diseases (C16.614)

English Title Translation
Newborn screening for inborn errors of metabolism, endocrinopathies, severe combined immunodeficiencies (SCID), sickle cell disease, 5q-associated spinal muscular atrophy (SMA), and cystic fibrosis
Date for Review
31/05/2026
Record Publish Year
2020
Guideline Contact
Ina Kopp (imwi@awmf.org)
Publication Scope
management
screening
Countries of Application
Germany
Guideline Publication Status
Under Review
Languages
German
Authors
AWMF (DE)
Publication Year
2019

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