Nonketotic Hyperglycinemia - GeneReviews® - NCBI Bookshelf
2002年11月14日 · Nonketotic hyperglycinemia (NKH) is the inborn error of glycine metabolism defined by deficient activity of the glycine cleavage enzyme system (GCS), which results in …
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 …
Nonketotic Hyperglycinemia (NKH): What It Is & Symptoms - Cleveland Clinic
2024年7月23日 · Nonketotic hyperglycinemia (NKH) is a rare disorder in which abnormally high levels of a molecule called glycine build up in your baby’s body. The excess 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 …
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 。 我国大陆地区发病率不详，仅有一个病例的 …
非酮性高甘氨酸血症（non-ketotic hyperglycinemia，NKH） | 遗 …
2019年1月18日 · 非酮性高甘氨酸血症（non-ketotic hyperglycinemia，NKH）又称甘氨酸脑病（glycine encephalopathy，GE，MIM 605899),因甘氨酸裂解酶系统(glycine cleavage …
1个非酮性高甘氨酸血症家系的临床和分子遗传学分析 - PMC
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 …
Nonketotic Hyperglycinemia - StatPearls - NCBI Bookshelf
2023年3月2日 · Nonketotic hyperglycinemia (NKH) is a rare genetic disease secondary to an inborn error in glycine metabolism. Due to a mutation in the glycine cleavage enzyme system, …
Nonketotic Hyperglycinemia (NKH) International Family Network
NKH International Family Network’s goal is to connect families and provide support and knowledge to anyone affected by the metabolic condition Nonketotic Hyperglycinemia (NKH) …
Variant non ketotic hyperglycinemia is caused by mutations in
2013年12月10日 · Nonketotic hyperglycinemia (NKH, MIM# 605899) is a disorder of glycine metabolism defined by deficient enzyme activity of the glycine cleavage enzyme system and …
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