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

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

Newborn screening (NBS) for hepatorenal tyrosinemia type I (HT1) based on a determination of succinylacetone is performed in countries worldwide. Recently, biallelic pathogenic variants in <i>GSTZ1</i> underlying maleylacetoacetate isomerase (MAAI) deficiency have been described as a dif...

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Main Authors: Gwendolyn Gramer (Author), Saskia B. Wortmann (Author), Junmin Fang-Hoffmann (Author), Dirk Kohlmüller (Author), Jürgen G. Okun (Author), Holger Prokisch (Author), Thomas Meitinger (Author), Georg F. Hoffmann (Author)
Format: Book
Published: MDPI AG, 2024-02-01T00:00:00Z.
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3rd Floor Main Library

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