2002年11月14日 · Based on ultimate outcome NKH is categorized into severe NKH (no developmental progress and intractable epilepsy) and attenuated NKH (variable …

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 …

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 。 我国大陆地区发病率不详，仅有一个病例的 …

2016年2月17日 · Nonketotic hyperglycinemia (NKH; OMIM 605899) is an autosomal recessive disorder of glycine metabolism that results from deficient activity of the glycine cleavage …

2014年3月19日 · Nonketotic hyperglycinemia (NKH) is an inherited inborn error of glycine degradation caused by a defect in the glycine cleavage system, leading to an accumulation of …

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 …

Nonketotic Hyperglycinemia (NKH, also known as Glycine Encephalopathy) is a neurometabolic disorder in children which prevents their bodies from processing glycine. Glycine (amongst …

2025年1月6日 · Nonketotic hyperglycinemia (NKH), also known as glycine encephalopathy, is a rare inherited neurometabolic disorder caused by a deficiency in the glycine cleavage enzyme …

2024年8月14日 · Different disease processes and outcomes were found in Chinese NKH patients, according to this study. The initial clinical presentations, CSF glycine levels and CSF to …

2023年3月1日 · NKH-related seizures should be suspected in adults with new-onset clustering focal seizures arising from the motor or posterior cortices, even in the absence of a history of …