aciduria
Objectives To summary the clinical characteristic of l ate onset methylmalonic aciduria (MMA).
目的 总结晚发型甲基丙二酸尿症(MMA)的临床特点。
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。
Hereditary delta-aminolevulinic aciduria
遗传性δ-氨基乙酰丙酸尿
Non-amino organic acidemia and aciduria
非氨有机酸血症和酸尿症
alpha-Methylacetoacetic aciduria
α-甲基乙酰乙酸尿症
oligophrenia phenyl pyruvic aciduria
智力发育不全性苯丙酮尿症
argi(ni)nosuccinic aciduria(argininosuccinuria)
精氨(基)琥珀酸尿
argininosuccinic aciduria(argininosuccinuria)
精氨(基)琥珀酸尿
arginosuccinic aciduria(argininosuccinuria)
精氨(基)琥珀酸尿
Clinical and laboratory study of late onset methylmalo nic aciduria
晚发型甲基丙二酸尿症的临床和实验室研究
beta hydroxyisovaleric aciduria
β羟基异戊酸尿症
beta-aminoisobutyric aciduria
β-氨基异丁酸尿(症)
Ethyimalonic-abipic aciduria
乙基丙二酸-脂肪酸尿症
ethylmalonic-adipic aciduria
乙基丙二酸己二酸尿
Hydroxymethylglutaric aciduria
羟甲基戊二酸尿症
delta-aminolevulinic aciduria
δ-氨基-γ酮戊酸尿(症)
methylmalonic aciduria combined with homocysteinemia
甲基丙二酸尿症
gamma-Hydroxybutyric aciduria
γ-羟丁酸尿症
Keywords inborn errors of metabolism;methylmalonic aciduria;urease pretreatment-gas chromatography-mass spectrometry;
遗传代谢病;甲基丙二酸尿症;尿素酶预处理-气相色谱-质谱法;
Keywords Organic aciduria;Acids/urine;Nervous system diseases/urine;Gas chromatography/mass spectrometry;GC/MS.;
有机酸尿症;酸类/尿;神经系统疾病/尿;气相色谱/质谱联用分析;
Keywords methylmalonic aciduria hyperhomocystinemia multiple organs dysfunction vitamin B12 betaine;
甲基丙二酸尿症;同型半胱氨酸血症;多系统损害;钴胺素;甜菜碱;
Keywords glutaric aciduria type 1;magnetic resonance image（MRI）;gas chromatography-mass spectrometry（GC-MS）;glutaric acid;
戊二酸尿症I型;气相色谱-质谱联用分析;磁共振成像（MRI）;戊二酸;
acetoacetic aciduria
乙酰乙酸尿(症)
methylmalonic aciduria
甲基丙二酸尿
argininosuccinic aciduria
精氨基琥珀酸尿
xanthurenic aciduria
黄尿酸尿
Hereditary orotic aciduria
遗传性乳清酸尿症
Secondary orotic aciduria
继发性乳清酸尿症
argininosuccinate aciduria
精氨酸琥珀酸尿症
arginosuccinic aciduria
精氨琥珀酸尿
β-aminoisobutyric aciduria
β-氨基异丁酸尿症
isovaleric aciduria
异戊酸尿症
propionic aciduria
丙酸尿
hydroxyisovaleric aciduria
羟异戊酸尿
D-glyceric aciduria
D-甘油酸尿
hyperdibasicamino aciduria
高氨基二羧酸尿症
aciduria
n. [医]酸尿
aminoisoleucine aciduria
氨基异亮氨酸尿
organic aciduria
有机酸尿症
genetic orotic aciduria
遗传性乳清酸尿症
pyroglutamic aciduria
焦谷氨酸尿(症)
Urocanic aciduria
尿刊酸尿症
dicarboxylic aciduria
二羧酸尿症
formiminoglutamic aciduria
亚胺基甲基谷氨(FIGL)酸尿症
amino aciduria
氨基酸尿症
orotic aciduria
乳清酸尿
Methylcrotonic aciduria
甲基巴豆酸尿症
glutaric aciduria type 1
戊二酸尿症Ⅰ型
glutaric aciduria type Ⅰ
戊二酸血症Ⅰ型
glutaric aciduria
戊二酸尿