Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
作者:
主题词
青少年(Adolescent);成年人(Adult);发病年龄(Age of Onset);烷基和芳基转移酶类(Alkyl and Aryl Transferases);氨基酸代谢障碍, 先天性(Amino Acid Metabolism, Inborn Errors);儿童(Child);钴胺酰胺类(Cobamides);疾病恶化(Disease Progression);女(雌)性(Female);随访研究(Follow-Up Studies);胃肠疾病(Gastrointestinal Diseases);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);Kaplan-Meiers评估(Kaplan-Meier Estimate);肾功能衰竭, 慢性(Kidney Failure, Chronic);男(雄)性(Male);膜转运蛋白质类(Membrane Transport Proteins);甲基丙二酸(Methylmalonic Acid);甲基丙二酸单酰CoA变位酶(Methylmalonyl-CoA Mutase);线粒体膜转运蛋白质类(Mitochondrial Membrane Transport Proteins);线粒体蛋白质类(Mitochondrial Proteins);突变(Mutation);神经系统疾病(Nervous System Diseases);预后(Prognosis);前瞻性研究(Prospective Studies);时间因素(Time Factors);维生素B12(Vitamin B 12);复合维生素B(Vitamin B Complex)
DOI
10.1203/PDR.0b013e3180a0325f
PMID
17597648
发布时间
2016-11-24
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Pediatric research
225-30页
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