.小詞典.

中英文對照名詞詞匯(二)

多巴反應(yīng)性肌張力障礙 dopa?responsive dystonia(DRD)

額顳葉癡呆 frontotemporal dementia(FTD)

兒童期靜態(tài)性腦病成年期神經(jīng)變性 static encephalopathy(of childhood)with neurodegeneration in adulthood(SENDA)

二代基因測序 next?generation sequencing(NGS)

發(fā)作性運動誘發(fā)性運動障礙 paroxysmal kinesigenic dyskinesia(PKD)

泛酸激酶相關(guān)性神經(jīng)變性病 pantothenate kinase?associated neurodegeneration(PKAN)

非翻譯區(qū) untranslated region(UTR)

腓骨肌萎縮癥 Charcot?Marie?Tooth disease(CMT)

分化抑制因子2 inhibitor of differentiation 2(ID2)

分泌型磷脂酶A2 secretory phospholipase A2(sPLA2)

輔酶A合成酶相關(guān)性神經(jīng)變性病 coenzyme A?associated neurodegeneration(CoPAN)

肝豆?fàn)詈俗冃?hepatolenticular degeneration(HLD)[Wilson病 Wilson's disease(WD)]

Friedreich共濟(jì)失調(diào) Friedreich's ataxia(FRDA)

共濟(jì)失調(diào)毛細(xì)血管擴(kuò)張癥 ataxia?telangiectasia(AT)

孤獨癥譜系障礙 autism spectrum disorders(ASDs)

胱硫醚β?合成酶 cystathione?β?synthase(CBS)

國際疾病分類法?10 International Classification of Disease?10(ICD?10)

國際人類基因組組織 Human Genome Organisation(HUGO)

國際人類基因組組織基因命名委員會 Human Organisation Gene Nomenclature Committee(HGNC)

黑色素細(xì)胞刺激素 melanocyte?stimulating hormone(MSH)

肌萎縮側(cè)索硬化癥 amyotrophic lateral sclerosis(ALS)Emery?Dreifuss

肌營養(yǎng)不良癥 Emery?Dreifuss muscular dystrophy(EDMD)

基質(zhì)細(xì)胞衍生因子?1 stromal cell?derived factor?1(SDF?1)

極光激酶B aurora kinase B(AURKB)

脊髓小腦共濟(jì)失調(diào) spinocerebellar ataxia(SCA)

脊髓性肌萎縮癥 spinal muscular atrophy(SMA)

甲基丙二酸血癥 methylmalonic acidemia(MMA)

O6?甲基鳥嘌呤?DNA甲基轉(zhuǎn)移酶 O6?methylguanine?DNA methyltransferase(MGMT)

甲狀旁腺激素 parathyroid hormone(PTH)

簡易智能狀態(tài)檢查量表 Mini?Mental State Examination(MMSE)

堿性磷酸酶 alkaline phosphatase(ALP)

堿性纖維母細(xì)胞生長因子 basic fibroblast growth factor(bFGF)

精準(zhǔn)醫(yī)療 precision medicine(PM)

α2巨球蛋白 α2?macroglobulin(α2M)

聚合酶鏈反應(yīng) polymerase chain reaction(PCR)