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粘多糖病
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  mucopolysaccharidosis
     Diagnosis and Differential Diagnosis of Mucopolysaccharidosis
     粘多糖病的诊断与鉴别诊断(附34例分析)
短句来源
     Allogeneic hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis type 1: a case report
     异基因造血干细胞移植治疗粘多糖病I型1例报告
短句来源
     MUCOPOLYSACCHARIDOSIS: A REPORT OF 4 CASES
     粘多糖病4例报告
短句来源
     They belonged to McKusick's type Ⅳ mucopolysaccharidosis.
     按Mckusick分型法,此4例均属粘多糖病Ⅳ型。
短句来源
     1 CASE OF ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION FOR TREATMENT OF MUCOPOLYSACCHARIDOSIS CARE
     1例异基因造血干细胞移植治疗粘多糖病的护理
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  “粘多糖病”译为未确定词的双语例句
     Clinical and Radiological Diagnosis of MucopalysaccharidosisⅥ--A Report of 2 Cases in One Family
     粘多糖病Ⅳ型的临床及X线诊断(附同一家族两例报告)
短句来源
     CLINICAL FEATURES AND X—RAY MANIFEST ATIONS OF MUCOPOLYS ACCH ARIDOSIS Ⅱ—B
     有关粘多糖病Ⅱ型B临床X线表现探讨
短句来源
     Differential diagnosis was also mentioned.
     讨论了本病与粘多糖病Ⅳ型的鉴别诊断。
短句来源
     ABSTRACT M ucopolysaccharidosis Ⅱ (MPS Ⅱ)and MPS Ⅰ are both characterized by gargoylist dwarfism. So, they are often confused. MPS Ⅱ only affects malepersons because of its X—linked recessive heredity.
     粘多糖病(MPs)Ⅱ型(Hunter Syndrome)与I型(Hurler Syndrome)在临床上都表现为承溜侏儒,常易混淆,但粘多糖病Ⅱ型系X连锁隐性遗传,只见于男性。
短句来源
     This study reported the therapeutic effect of allogeneic hematopoietic stem cell transplantation (allo-HSCT) on Hurler syndrome in one case.
     该研究进行了异基因造血干细胞移植治疗该病的初步尝试,探讨异基因干细胞移植治疗粘多糖病的疗效。
短句来源
  相似匹配句对
     MUCOPOLYSACCHARIDOSIS: A REPORT OF 4 CASES
     粘多糖病4例报告
短句来源
     MUCOPOLYSACCHARIDOSIS (A CLINICAL-RADIOLOGIC ANALYSIS OF 24 CASES)
     粘多糖病24例临床X线分析
短句来源
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  mucopolysaccharidosis
Urine glyeosaminoglycan (GAG) assay was used to make the preliminary diagnosis of mucopolysaccharidosis type II.
      
Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis
      
This review reports the CT and MRI findings of patients suffering from mucopolysaccharidosis in the context with aspects of biochemistry, pathophysiology, histological findings and clinical course.
      
Mucopolysaccharidosis type IIID (MPS IIID) is a lysosomal storage disorder resulting from lack of activity of the lysosomal hydrolase N-acetylglucosamine 6-sulfatase (6S) (EC 3.1.6.14).
      
A total of eleven children with various types of mucopolysaccharidosis were investigated.
      
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  mucopolysacharidosis
Reference is also made to two further cases [mucopolysaccharidosis VI and mucopolysacharidosis IIIB] in which the CT showed special features.
      


Mucopolysaccharidosis Ⅳ (MpS-Ⅳ) is a group of recessive inherited osteochondrodystrophy. It is comparatively difficult to diagnose clinically, there fore misdiagnosis is a common occurrence. Six siblings in one family whose urine are all positive for mucopolysaccharides are reported in this article. Karyotypes of chromosome are all normal. All had such clinical symptoms as growth retardation and skeleton abmormalities, etc. There is no room for doubt about the diagnosis,As this disease is rather rare and difficult...

Mucopolysaccharidosis Ⅳ (MpS-Ⅳ) is a group of recessive inherited osteochondrodystrophy. It is comparatively difficult to diagnose clinically, there fore misdiagnosis is a common occurrence. Six siblings in one family whose urine are all positive for mucopolysaccharides are reported in this article. Karyotypes of chromosome are all normal. All had such clinical symptoms as growth retardation and skeleton abmormalities, etc. There is no room for doubt about the diagnosis,As this disease is rather rare and difficult to diagnose, typical case histories are worth to be introduced here· Types, morbidity, inherited characters and diagnostic guidelines are briefly discussed.

粘多糖代谢病Ⅳ型(MPS-Ⅳ)是一组隐性遗传性骨软骨营养障碍性疾病,临床诊断较困难。本文报告一家系六例粘多糖Ⅳ型患者,并对粘多糖病分型及酶学研究进行了复习。

Nine cases of spondy loepiphyseal dysplasia congenita,a hereditary dwarfi-sm,are reported.The main radiologic features include flattening of vertebral bodies in AP view and trapezoid configuration in lateral view,pelvic dysplasia underossification of the femoral head,neck and humeral head,but the short tubular bones of the hands and feet are usually of normal length and shape.Differential diagnosis was also mentioned.

脊柱骨骺发育不良(先天型)是一种由脊柱和四肢长骨近端骨骺发育障碍所引起的侏儒畸形,类似粘多糖病Ⅳ型。X 线表现的主要特点是椎体变扁,侧位呈横置的梨形;骨盆发育不良;股骨头、颈以及肱骨头骨化不良。但手足短管状骨长度和形态正常。讨论了本病与粘多糖病Ⅳ型的鉴别诊断。

Sialic acid, fucose, hexose and hexosamine are the constituents of mucopolysaccharide. These constituents were assayed simultaneously in morning urine and 24-hour urine of 24 normal children and 30 children with mucopolysaccharidosis, dwarfism with pituitary insufficiency and hypothyroidism, or with symptoms of hypointelligence and retarded skeleton development. The results showed parallel values between morning and 24hour urine. It is concluded that determination of sialic acid, fucose, hexose or hexosamine...

Sialic acid, fucose, hexose and hexosamine are the constituents of mucopolysaccharide. These constituents were assayed simultaneously in morning urine and 24-hour urine of 24 normal children and 30 children with mucopolysaccharidosis, dwarfism with pituitary insufficiency and hypothyroidism, or with symptoms of hypointelligence and retarded skeleton development. The results showed parallel values between morning and 24hour urine. It is concluded that determination of sialic acid, fucose, hexose or hexosamine in morning urine in terms of mg per g of creatinine is more practical than determination of 24-hour urine. In children it is often difficult to collect the whole 24-hour urine without loss.

本文探讨用测定晨尿中粘多糖的组成成分、唾液酸、岩藻糖、己糖及氨基己糖的含量来反映尿中粘多糖量的变化。同时测定展尿及24小时尿中上述组分的含量观察其结果的相关性。共计测定正常儿童24例,粘多糖病6例,垂体蛙侏儒症和甲减呆小症8例,以及其他智力低下、骨发育迟缓儿童16例。实验结果表明晨尿和24小时尿样上述组分的含量变化有平行关系。初步认为采用晨尿适合,可测定晨尿中唾液酸、岩藻糖、己糖或氨基己糖,以所测组分浓度mg/g肌酐比值来反映尿中粘多糖量的变化,可省去收集患儿24小时尿样的困难及防止因漏尿而产生的结果误差。

 
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