
Nonketotic Hyperglycinemia - Symptoms, Causes, Treatment | NORD
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 …
The genetic basis of classic nonketotic hyperglycinemia due to ...
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: Insight into Current Therapies
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的临床和分子遗传学特点 - PMC
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 …
Clinical and genetic analysis of nonketotic hyperglycinemia: A case ...
Nonketotic hyperglycinemia (NKH), also known as glycine encephalopathy, is an autosomal recessive genetic disease with abnormal glycine metabolism caused by insufficient activity of …
Clinical and genetic analysis of nonketotic hyperglycinemia: A case ...
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研究进展 - 国际儿科学杂志
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 …
Comparative small RNA sequencing reveals candidate functional …
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 …
[Clinical and molecular genetic study of nonketotic ... - PubMed
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 …
GLDC基因复合杂合突变致非经典型非酮性高甘氨酸血症家系的临 …
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。