New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center

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Title:: New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
Document type:: Zeitschriftenaufsatz
Author(s):: Gramer, Gwendolyn ; Wortmann, Saskia B. ; Fang-Hoffmann, Junmin ; Kohlmüller, Dirk ; Okun, Jürgen G. ; Prokisch, Holger ; Meitinger, Thomas ; Hoffmann, Georg F.
Keywords:: Article ; newborn screening ; tyrosinemia type I ; succinylacetone ; maleylacetoacetate isomerase deficiency ; GSTZ1
Journal title:: International Journal of Neonatal Screening
Year:: 2024
Journal volume:: 10
Journal issue:: 1
Fulltext / DOI:: doi:10.3390/ijns10010017
Publisher:: MDPI
E-ISSN:: 2409-515X
Date of publication:: 27.02.2024
CC license:: by, https://creativecommons.org/licenses/by/4.0

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