.小詞典.

中英文對(duì)照名詞詞匯(四)

血小板源性生長(zhǎng)因子受體 platelet?derived growth factor receptor(PDGFR)

N5,10?亞甲基四氫葉酸還原酶 N5,10?methylene tetrahydrofolate reductase(MTHFR)

遺傳性痙攣性截癱 hereditary spastic paraplegia(HSP)

遺傳性運(yùn)動(dòng)感覺神經(jīng)病 hereditary motor and sensory neuropathy(HMSN)

乙二胺四乙酸 ethylenediaminetetraacetic acid(EDTA)

乙酰肉堿 acetylcarnitine(C2)

嬰兒神經(jīng)軸索營(yíng)養(yǎng)不良 infantile neuroaxonal dystrophy(INAD)

熒光原位雜交 fluorescence in situ hybridization(FISH)

原發(fā)性家族性腦鈣化 primary familial brain calcification(PFBC)

運(yùn)動(dòng)神經(jīng)元病 motor neuron disease(MND)

在線人類孟德爾遺傳數(shù)據(jù)庫(kù) Online Mendelian Inheritance in Man(OMIM)

整合素樣金屬蛋白酶與凝血酶6型 disintegrin and metalloproteinase with thrombospondin motif?6(ADAMTS6)

正常血鉀型周期性麻痹 normokalemic periodic paralysis(NormPP)

癥狀自評(píng)量表 Symptom Check List?90(SCL?90)

肢帶型肌營(yíng)養(yǎng)不良癥 limb?girdle muscular dystrophy(LGMD)

脂肪酸羥化酶相關(guān)性神經(jīng)變性病 fatty acid hydroxylase?associated neurodegeneration(FAHN)

植入型心律轉(zhuǎn)復(fù)除顫器 implantable cardioverter defibrillator(ICD)

中文人類表型標(biāo)準(zhǔn)用語 China Human Phenotype Ontology(CHPO)

周期性麻痹 periodic paralysis(PP)

Andersen?Tawil綜合征 Andersen?Tawil syndrome(ATS)

Woodhouse?Sakati綜合征 Woodhouse?Sakati syndrome(WSS)