Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4 - Chen, Yuanying; Fang, Boliang; Hu, Xuyun; Guo, Ruolan; Guo, Jun; Fang, Kenan; Ni, Jingwen; Li, Wei; Qian, Suyun; Hao, Chanjuan (Orphanet journal of rare diseases, 2021)
Keywords: Acids; Basal ganglia; Brain Diseases; Causes of; Chromatography; Coma; Compound heterozygosity; Consciousness; Decision making; Diagnosis; Encephalopathy; Etiology; Exome sequencing; Fever; Functional study; Genetic analysis; Genetic aspects; Genetic testing; Genetic variation; Genomes; Health aspects; Hereditary diseases; Humans; Infections; Magnetic resonance imaging; Medical research; Medicine, Experimental; Membrane Transport Proteins - genetics; Metabolism; Metabolism, Inborn errors of; Mitochondria; Mitochondrial DNA; Mitochondrial Membrane Transport Proteins - genetics; Muscle strength; Mutation - genetics; Neostriatum; Pathogenicity; Patients; Phenotype; Phenotypes; Polyneuropathy; Proteins; Rare diseases; Sequence analysis; SLC25A19; Statistical analysis; Thiamine; Thiamine Deficiency - genetics; Thiamine metabolism dysfunction syndrome 4; Thiamine pyrophosphate; Viral infections; Vitamin B; China; Beijing China; United States--US; Germany; Thiamine metabolism dysfunction syndrome 4; Compound heterozygosity; Thiamine pyrophosphate; Functional study; SLC25A19; Exome sequencing