Associated Papers
Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease.
Erdal R et al.
Metabolites, 2025
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
38374498 (PubMed )
Supplement: EMS195231-supplement-Supplementary_tables.xlsx › S3_Published
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S4Tab_DD-166_DNA_variants
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira L et al.
Human Molecular Genetics, 2023
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.
Majethia P et al.
Clinical Genetics, 2021
Select a paper to view details