Associated Papers
Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.
Barretta F et al.
Genes, 2025
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
Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.
Wu Y et al.
Frontiers in Genetics, 2021
34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.
Yang H et al.
Journal of Medical Genetics, 2017
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