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
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.
Li Z et al.
Science Advances, 2020
32133402 (PubMed )
Supplement: aay4211_Table_S2.xlsx › SomaticMutations
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.
Kovacs-Nagy R et al.
Neuropediatrics, 2018
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