Associated Papers
Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.
Barretta F et al.
Genes, 2025
β-catenin mediates growth defects induced by centrosome loss in a subset of APC mutant colorectal cancer independently of p53.
Bourmoum M et al.
Plos One, 2024
38324534 (PubMed )
Supplement: pone.0295030.s003.xlsx › 3samples.exome.dp5.snvindel
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1.
van Vliet K et al.
Journal of Inherited Metabolic Disease, 2023
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.
Yang H et al.
Journal of Medical Genetics, 2017
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