methylmalonic aciduria是什么意思,methylmalonic aciduria的解释:化 甲基丙二酸尿...,methylmalonic aciduria中英例句,英汉词典。
methylmalonic aciduria 甲基丙二酸尿 methylmalonic acid 甲基丙二酸,异丁二酸 methylmalonic semialdehyde 甲基丙二酸单醛 orotic aciduria 乳清酸尿 β aminoisobutyric aciduria β-氨基异丁酸尿症 paradoxical aciduria 反常性酸性尿 propionic aciduria 丙酸尿 isovaleric aciduria 异戊酸尿症 xanthurenic...
与甲基丙二酸尿症&高胱氨酸尿症cblC型(Methylmalonic aciduria & homocystinuria, cblC type)相关,参考文献:Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).PubMed:17768669(所参考数据库:H...
MMAB相关甲基丙二酸尿症的英文名字是Methylmalonic Aciduria, MMAB-Related。基因解码表明:佳学基因通过基因解码发现:MMAB相关甲基丙二酸尿症是由MMAB基因的突变引起的。MMAB基因编码一种酶,称为甲基丙二酸辅酶A转移酶(Methylmalonic aciduria type B protein),该酶在体内参与维生素B12代谢的过程中。MMAB基因突变会...
读音:/jiǎ jī bǐng èr suān xuè zhèng/ 甲基丙二酸血症的英文翻译 methylmalonic acidemia 甲基丙二酸血症汉英翻译 methylmalonic acidemia甲基丙二酸血症; 词组短语 中甲基丙二酸血症Methylmalonic Acidemias 双语例句 1. The Diagnosis and Treatment of Methylmalonic Aciduria ...
MMACHC 基因是甲基丙二酸尿症和高胱胺酸尿症 cblC 型(Methylmalonic aciduria and homocystinuria, cblC type) 的致病基因,为常染色体隐性遗传方试(AR)。 对于该类遗传方式,复合杂合变异可能导致发病。在受检者 MMACHC基因所发现的复合杂合变异分别遗传自受检者其父母,父母均为杂合子,符合常染色体隐性遗传方式,...
Diss E, Iams J, Reed N, Roe DS, Roe C (1995) Methylmalonic aciduria in pregnancy: a case report. Am J Obstet Gynecol 172(3):1057–1059Diss E, Iams J, Reed N, Roe DS, Roe C (1995) Methylmalonic aciduria in pregnancy: a case report. Am J Obstet Gynecol 172:1057-1059...
1) methylmalonic aciduria 甲基丙二酸尿症 1. Objective To explore the value of urease pretreatment-gas chromatography-mass spectrometry(UP-GC-MS) in the diagnosis and therapy ofmethylmalonic aciduria(MMA). 目的探讨尿素酶预处理-气相色谱-质谱法(UP-GC-MS)在甲基丙二酸尿症(MMA)诊断、治疗中的价值。
1.Objective To explore the value of urease pretreatment-gas chromatography-mass spectrometry(UP-GC-MS) in the diagnosis and therapy of methylmalonic aciduria(MMA).目的探讨尿素酶预处理-气相色谱-质谱法(UP-GC-MS)在甲基丙二酸尿症(MMA)诊断、治疗中的价值。 2.In this thesis,information of biomarkers...
"A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurological abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegitarian". N Engl J Med. 299 (7): 317-323. PMID 683264. ^ http://www.biology.arizona.edu/biochemistry/problem_sets/b12/04t....