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Year | Number of Results |
---|---|
2023 | 2 |
2024 | 2 |
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Page 1
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
J Inherit Metab Dis. 2024 Apr 2. doi: 10.1002/jimd.12731. Online ahead of print.
J Inherit Metab Dis. 2024.
PMID: 38563533
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.
Schnabel E, Kölker S, Gleich F, Feyh P, Hörster F, Haas D, Fang-Hoffmann J, Morath M, Gramer G, Röschinger W, Garbade SF, Hoffmann GF, Okun JG, Mütze U.
Schnabel E, et al.
Nutrients. 2023 Jul 28;15(15):3355. doi: 10.3390/nu15153355.
Nutrients. 2023.
PMID: 37571294
Free PMC article.
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Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria.
Zaunseder E, Mütze U, Garbade SF, Haupt S, Feyh P, Hoffmann GF, Heuveline V, Kölker S.
Zaunseder E, et al.
Metabolites. 2023 Feb 18;13(2):304. doi: 10.3390/metabo13020304.
Metabolites. 2023.
PMID: 36837923
Free PMC article.
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New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.
Gramer G, Wortmann SB, Fang-Hoffmann J, Kohlmüller D, Okun JG, Prokisch H, Meitinger T, Hoffmann GF.
Gramer G, et al.
Int J Neonatal Screen. 2024 Feb 27;10(1):17. doi: 10.3390/ijns10010017.
Int J Neonatal Screen. 2024.
PMID: 38535121
Free PMC article.
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