2016年9月14日 · Non-ketotic hyperglycinemia (NKH) is a rare, genetic, metabolic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine, resulting in an …

2016年6月30日 · To provide a comprehensive overview of the genetic basis of classic NKH, we compiled genetic results from clinical and research laboratories that provide diagnostic testing …

Nonketotic hyperglycinemia (NKH) is a rare inborn error of glycine metabolism that is characterized by the accumulation of glycine in all tissues, especially in the central nervous …

非酮症高甘氨酸血症（nonketotic hyperglycinemia, NKH）是一种罕见的先天性遗传代谢性疾病，为常染色体隐性遗传，发病率约为1/250000 [1]。 我国大陆地区发病率不详，仅有一个病例 …

Nonketotic hyperglycinemia (NKH), also known as glycine encephalopathy, is an autosomal recessive genetic disease with abnormal glycine metabolism caused by insufficient activity of …

2022年8月6日 · Background: Nonketotic hyperglycinemia (NKH) is a rare autosomal recessive genetic disorder of abnormal glycine metabolism caused by insufficient activity of the glycine …

非酮性高甘氨酸血症(nonketotic hyperglycinemia，NKH)，又称甘氨酸脑病，是一种罕见的致死性常染色体隐性遗传病，是由于甘氨酸裂解系统活性不足，使甘氨酸分解障碍而在体内蓄积，导 …

2024年12月19日 · We conducted multi-step bioinformatics analysis to predict, annotate, and characterize candidate miRNAs for their cellular targets, associated pathways, and …

非酮性高甘氨酸血症（NKH）是一种罕见的先天性遗传代谢性疾病，该文报道1例GLDC基因突变所致NKH的中国患儿，就其临床经过、基因缺陷进行研究。 患儿以早发性代谢性脑病以及大田 …

非酮性高甘氨酸血症 （nkh）是由甘氨酸裂解系统缺陷引起的常染色体隐性遗传疾病，分经典型和非经典型，而非经典型表现复杂多样，诊断较为困难。