Search Results - "Schnabel-Besson E"

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  1. 1

    A multi-dimensional framework for establishing and managing a genomic newborn screening program.

    Authors: Schnabel-Besson E Dikow N Alex K et al.

    Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Feb 28. Date of Electronic Publication: 2026 Feb 28.

    Publication Type: Journal Article

    Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

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  2. 2

    Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.

    Authors: Schnabel-Besson E Garbade SF Gleich F et al.

    Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12784. Date of Electronic Publication: 2024 Aug 27.

    Publication Type: Journal Article; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

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  3. 3

    Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.

    Authors: Reischl-Hajiabadi AT Garbade SF Gleich F et al.

    Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Nov; Vol. 48 (6), pp. e70090.

    Publication Type: Journal Article; Meta-Analysis; Systematic Review

    Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

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  4. 4

    Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion.

    Authors: Mütze U Scharré S Schnabel-Besson E et al.

    Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2025 May; Vol. 56, pp. 84-96. Date of Electronic Publication: 2025 Apr 24.

    Publication Type: Journal Article; Review

    Journal Info: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

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  5. 5

    Long-Term Outcomes of Adolescents and Young Adults Identified by Metabolic Newborn Screening.

    Authors: Mütze U Stengel J Gleich F et al.

    Source: Pediatrics [Pediatrics] 2025 Apr 01; Vol. 155 (4).

    Publication Type: Journal Article; Multicenter Study; Observational Study

    Journal Info: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE

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  6. 6

    Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?

    Authors: Schnabel-Besson E Mütze U Dikow N et al.

    Source: International journal of neonatal screening [Int J Neonatal Screen] 2024 Sep 13; Vol. 10 (3). Date of Electronic Publication: 2024 Sep 13.

    Publication Type: Journal Article; Review

    Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

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