机译:由双等位基因亚甲基四氢叶酸还原酶变异引起的高胱氨酸尿症的可变神经表型
Dept Med Genet,Sanjay Gandhi Postgrad Inst Med Sci;
betaine; encephalopathy; genotype-phenotype correlation; homocystinuria; intellectual disability; spastic paraparesis; TREATABLE CAUSE; DEFICIENCY; MTHFR; MUTATIONS; GENE; PARAPLEGIA; PSYCHOSIS; RARE;