The inherited disorders of GABA metabolism include: (1) pyridoxine-dependent seizures (?glutamic acid decarboxylase deficiency) (>50 patients); (2) GABA-transaminase deficiency (2 patients/1 family); (3) succinic semialdehyde dehydrogenase deficiency (32 patients/21 families); and (4) homocarno...
遗传代谢病(Inherited Metabolic Disorders),又称遗传代谢异常或先天代谢缺陷。 遗传代谢病就是有代谢功能缺陷的一类遗传 … blog.sina.com.cn|基于12个网页 2. 遗传性代谢疾病 遗传性代谢疾病(inherited metabolic disorders),又称先天性代谢异常(inborn errors of metabolism, IEM), 是由于基因突变导致机 … ...
Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res 49: 697-714.Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid ...
1. Inherited disorders of HDL metabolism and atherosclerosis. [J] . Hovingh GK, de Groot E, van der Steeg W, Current opinion in lipidology . 2005,第2期 机译:HDL代谢和动脉粥样硬化的遗传性疾病。 2. HDL and endothelial protection: Examining evidence from HDL inherited disorders [J] . Go...
inherited metabolic disorderslysosomal enzymesmetachromatic leukodystrophyperipheral bloodSummary The inborn errors of metabolism (IEM) are a diverse group of diseases arising from genetic defects, including deficiencies in the production of the lysosomal enzymes (Lysosomal Storage Disease, LSD) and ...
An increasing number of women with inborn errors of metabolism are now reaching child-bearing age. For certain disorders there are maternal risks associated with pregnancy. These may be related to an increased likelihood of metabolic decompensation (e.g. disorders of the urea cycle) or to increase...
Genetic disorders of HDL metabolism are rare and, as a result, the assessment of atherosclerosis risk in individuals suffering from these disorders has been difficult. Ultrasound imaging of carotid arteries has provided a tool to assess the risk in hereditary hypo and hyperalphalipoproteinemia. This...
关键词: adrenoleukodystrophy allogeneic﹉ematopoietic cell transplantation bone marrow transplantation globoid cell leukodystrophy inborn errors of metabolism inherited metabolic disorders lysosomal enzymes metachromatic leukodystrophy peripheral blood 出版时间: MAY 2017 ...
Metal metabolism disorders:Levels of trace metals in thebloodare controlled by special proteins. Inherited metabolic disorders can result in protein malfunction and toxic accumulation of metal in the body: Wilson disease (toxic copper levels accumulate in theliver,brain, and other organs) ...
The diagnosis of inborn errors of metabolism is challenging for most physicians. Improvements in medical technology and greater knowledge of the human genome are resulting in significant changes in the diagnosis, classification, and treatment of inherited metabolic disorders (IMDs). Many known inborn ...