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: | , , , , , , , |
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| Format: | Book |
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MDPI AG,
2024-02-01T00:00:00Z.
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