inherited metabolic diseases 中文意思是什麼
inherited metabolic diseases
解釋
遺傳代謝性疾病相關基因克隆進展-
This article reviews the clinical manifestations, mutation feature, gene location and phenotype of different ischemic cerebrovascular disease caused by monogenic disorders, including coagulation disorders, erythrocytic disorders, inherited small vessel disease, metabolic disorders, connective tissue diseases, vasculopathies and disorders of unknown etiology
本文主要闡述了單基因遺傳障礙引起的缺血性腦血管病，包括凝血障礙、血細胞病、遺傳性小血管病、代謝障礙、結締組織病、大動脈病及不明原因引起缺血性腦血管病的臨床特徵、突變特點、基因定位及表型等遺傳學研究進展。 -
Most of these inherited metabolic diseases are not curable. however, prenatal diagnosis and genetic analysis will enable early diagnosis and treatment in this group of patients
大部份生化遺傳病是不可能完全治愈的，但產前診斷及遺傳因子檢查可以及早發現病源，為病人提供適合的治療。 -
Among the definable underlying diseases, 31. 0 % were diagnosed as inherited metabolic disorders, including mitochondrial disorders ( n = 4 ), primary systemic carnitine deficiency ( n = 1 ), pompe disease ( n = 3 ) and mucopolysaccharidosis ( mps ) i ( n = 1 )
此外在這個研究分析中發現，有很大部分的心肌病變兒童（ 50 % ）並未找到造成疾病的根本原因；並且這部分的兒童亦未曾接受過適當的遺傳與代謝疾病篩檢。 -
With increased awareness and the development of more advanced biochemical investigations, increasing number of infants and children with inherited metabolic diseases as such are being diagnosed in hong kong
由於醫學科技的發展，現在可以診斷出越來越多患有生化遺傳病的兒童。中文大學醫學院已設立香港第一個生化遺傳病的專科門診。 -
Inherited conditions or other diseases e. g. metabolic diseases, blockage of the bile ducts what are the effects
遺傳或其他疾病所致（如代謝疾病及膽管阻塞）
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