Associated Papers
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.
Gurusamy U et al.
Frontiers in Genetics, 2023
3-Methylglutaconic aciduria type VIII in an Indian neonate.
Sreedhara MS et al.
Birth Defects Research, 2020
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
Oláhová M et al.
Journal of Inherited Metabolic Disease, 2017
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.
Mandel H et al.
Journal of Medical Genetics, 2016
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