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"inborn lysosomal disease"¿¡ ´ëÇÑ °Ë»ö °á°úÀÔ´Ï´Ù. °Ë»ö °á°ú º¸´Â µµÁß¿¡ Tab ۸¦ ´©¸£½Ã¸é °Ë»ö âÀÌ ¼±Åõ˴ϴÙ.
¾Ë±â½¬¿î ÀÇÇпë¾îÇ®ÀÌÁý, ¼­¿ïÀÇ´ë ±³¼ö ÁöÁ¦±Ù, °í·ÁÀÇÇÐ ÃâÆÇ À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
¿µ¹® infectious disease ÇÑ±Û °¨¿°º´
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  ¹ÙÀÌ·¯½º·ÎºÎÅÍ ±â»ýÃæ Å©±â±îÁöÀÇ »ý¹°À» ¿øÀÎÀ¸·Î Çϴ º´. ¿øÀÎÀº Á¢ÃËÀü¿°¼ºÀ̸ç, º´¿ø¿¡¼­ °¨¿°µÇ´Â °æ¿ìµµ ÀÖ´Ù. °¨¿°À» ¿øÀαտ¡ µû¶ó ºÐ·ùÇϸ頹ÙÀÌ·¯½º, ¼¼±Õ, Å¬¶ó¹Ìµð¾Æ, ¸®ÄÏÂ÷, ¹ÌÄÚ¹ÚÅ׸®¿ò, °õÆÎÀÌ, ¿øÃæ, À±Ãæ, ¿ÜºÎ±â»ýÃæ °¨¿°À¸·Î ³ª´­ ¼ö ÀÖ´Ù.
¿µ¹® hypertensive heart disease ÇÑ±Û °íÇ÷¾Ð½ÉÀ庴
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  °íÇ÷¾Ð¿¡ ÀÇÇØ¼­ »ý±â´Â ½ÉÀ庴. °íÇ÷¾Ð½ÉÀ庴À̶ó´Â Áø´ÜÀ» ºÙÀ̱â À§Çؼ­´Â ÃÖ¼ÒÇÑ ´ÙÀ½°ú °°Àº Á¶°ÇÀÌ ºÎÇյǾî¾ß Çϴµ¥, Ã¹Â° ½ÉÀåÇ÷°ü°è¿¡ ½ÉÀ庴À» À¯¹ßÇÒ ¼ö ÀÖÀ» ¸¸ÇÑ ´Ù¸¥ º´º¯ÀÌ ¾øÀÌ Á½ɽǠºñ´ë°¡ ÀÖ¾î¾ß Çϸç, µÑ° °íÇ÷¾ÐÀ» ¾Î¾Ò´Ù´Â º´·ÂÀÌ ÀÖ¾î¾ß ÇÑ´Ù. ÁַΠ°íÇ÷¾Ð¿¡ ÀÇÇÑ ½ÉÀ庴Àº Ãʱ⿡´Â Á½ɽÇÀÌ ºñÈĶó´Â °ÍÀ¸·Î Æ¯Â¡µÇ¾îÁø´Ù. Áï Ç÷¾ÐÀÌ ³ôÀ¸¹Ç·Î Ç÷¾×À» ¼øÈ¯½Ã۱â À§Çؼ­´Â ±×¸¸Å­ ½ÉÀåÀÇ Ç÷¾×À» º¸³»´Â ÈûÀÌ ÁÁ¾Æ¾ß ÇÑ´Ù. ±× ÈûÀ» ¾ò±âÀ§Çؼ­´Â ½É±ÙÀÇ ºñÈİ¡ ÇÊ¿ä·Î ÇÏ¿© Á½ɽǠ±ÙÀ°ÀÇ ºñÈİ¡ »ý±ä´Ù. ±×¸®°í °íÇ÷¾ÐÀÌ Áö¼ÓÀÌ µÉ °æ¿ì¿¡´Â °á±¹ ½ÉÀåÀÌ Á¦ ±¸½ÇÀ» ÇÏÁö ¸øÇ졒ʮßÇÁ·Î¼­ÀÇ ±â´ÉÀ» ÀÒ¾î¹ö¸®°Ô µÇ¾î ½ÉÀå±â´É»ó½Ç¿¡ ºüÁö°Ô µÈ´Ù.
¿µ¹® pelvic inflammatory disease ÇÑ±Û °ñ¹Ý¿°Áúȯ
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  °ñ¹ÝÁÖÀ§ÀÇ Àå±â¿¡ ¹ß»ýÇϴ ¿°ÁõÀ» ¸»ÇÔ. ÁַΠ¿©¼º¿¡¼­ ¹ß»ýÇϸ砿øÀÎÀº ÀÓ±Õ(gonococcus)°ú ºñÀÓ±Õ¿¡ ÀÇÇÑ °¨¿°(non-gonorrheal infection)¿¡ ÀÇÇÑ´Ù. Áõ»óÀº Ãʱ⿡´Â ÁúºÐºñ¹°, ÇϺ¹ºÎµ¿Åë, ¿©¼ºÀÇ »ý½Ä±âºÎÀ§¿¡ ¹ß»ýÇϴ ¾ÐÅë, ¿ù°æÅë, ¿ù°æ·®ÀÇ Áõ°¡ µîÀÌ´Ù. ÀÏÂï Ä¡·áÇØ¾ß Çϸç, °è¼ÓÀûÀ¸·Î º´ÀÌ Áö¼Ó½Ã ¿©¼ºÀÇ ºÒÀÓÀÇ ¿øÀÎÀÌ µÈ´Ù. ÈÄÁø±¹¿¡¼­´Â °¡Àå ¸¹Àº ¿©¼ººÒÀÓÀÇ ¿øÀÎÀ̱⵵ ÇÔ. Ä¡·á´Â Ç×»ýÁ¦ÀÇ Åõ¿©ÀÌ´Ù.
¿µ¹® Graves' disease ÇÑ±Û ±×·¹À̺꽺º´
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  °©»ó»ùÀÇ ºñ´ë¿Í °©»ó»ùÈ£¸£¸óÀÇ °ú´ÙºÐºñ°¡ Æ¯Â¡ÀΠº´ÀÌ´Ù. ÀÌ º´Àº ÁַΠ25~50¼¼¿¡ È£¹ßÇϰí ÁַΠ¿©ÀÚ¿¡°Ô¼­ ¸¹ÀÌ »ý±ä´Ù. °©»ó»ù È£¸£¸óÀº ÀúÀåµÇ¾î Àִ ¿¡³ÊÁö¸¦ ¼Ò¸ðÇÏ¿© ½ÅüÀÇ ´ë»çÀ²À» ³ôÀ̴ ȣ¸£¸óÀ̹ǷΠÀÔ¸ÀÀÌ ÁÁÀº µ¥µµ ºÒ±¸Ç졒ʡè¼ÓÀûÀΠüÁßÀÇ °¨¼Ò, ±×¸®°í ÃàÀûµÈ ¿¡³ÊÁö¸¦ ¼Ò¸ðÇÏ¿© ¿­»ý¸¹ÀÌ ÇÏ¿©¼­ ´õÀ§¸¦ Âü±â Èûµé¾îÇÏ°í ¸¸¼º ¼è¾à°¨À̳ª ±Ù·ÂÀÇ ¾àÈ­¸¦ º¸ÀÏ ¼ö°¡ ÀÖ´Ù. ±×¸®°í ´«¿¡ Æ¯Â¡ÀûÀΠÁõ»óÀÌ ³ªÅ¸³ª´Âµ¥ ´«²¨Ç®ÀÌ ºñÁ¤»óÀûÀ¸·Î À§·Î ¿Ã¶ó°¡ ÀÖ°í, ´«ÀÌ ¾Æ·¡ÀÇ ¹°°ÇÀ» ÁÖ½ÃÇÒ °æ¿ì¿¡ ´«²¨Ç®ÀÌ Á¤»óÀûÀ¸·Î´Â Ã³Á®¾ß ÇÏÁö¸¸ °©»ó»ù È£¸£¸óÀÌ °úµµÇϰԠ³ª¿Ã °æ¿ì¿¡´Â ´«²¨Ç®À̠óÁöÁö ¾Ê´Â´Ù. ¶Ç ´«¾ËÀÌ ¾ÕÂÊÀ¸·Î µ¹ÃâÇϴ ¾È±¸µ¹ÃâÀ» º¼ ¼ö°¡ ÀÖ´Ù. ¶Ç ÇǺΰ¡ ¾ÆÁÖ ºÎµå·´°í ¹°±â°¡ ¸¹¾Æ¼­ ÃàÃàÇÏ´Ù. ±×¸®°í Æ¯Â¡ÀûÀ¸·Î ÇÏÁöÀÇ ¾ÕÂÊ¿¡ ÇǺΰ¡ µÎ²¨¿öÁ® ±¹¼ÒÀû À¶±â¸¦ ÀÌ·ç´Â °ÍÀÌ Àִµ¥ À̰ÍÀº ÀÌ º´ÀǠƯ¡ÀûÀΠº´ÅÍÀÌ´Ù.
¿µ¹® Raynaud disease ÇÑ±Û ·¹À̳뺴
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  ±â´ÉÀû Ç÷°ü °æ·ÃÀ» ÀÏÀ¸Å°´Â º´À¸·Î °Ç°­ÇÑ ÀþÀº ¿©¼ºÀÇ ÆÈ´Ù¸® ÀÛÀº µ¿¸ÆÀ» Ä§¹üÇÑ´Ù. ÇÁ¶û½º ÀÇ»ç M.·¹À̳ë(1834~1881)°¡ º¸°íÇÑ °ÍÀ¸·Î ÀÌ º´Àº ÁַΠ¼Õ°¡¶ô, ¼Õ, ¶§·Î´Â ÄÚ³¡À̳ª ¹ßµî, ¸öÀÇ ¸»´ÜºÎ ¼Òµ¿¸ÆÀ» Ä§¹üÇÑ´Ù. Çѳðú °¨Á¤Àڱؿ¡ ÀÇÇϸ砼հ¡¶ôÀº ¹é»öÀ¸·Î ´ÙÀ½Àº Ã»»öÀ¸·Î, ±×¸®°í Àû»öÀ¸·Î º¯ÇÑ´Ù. ¿©¼º¿¡°Ô È£¹ßÇÑ´Ù.
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • lysosomal storage disease
    ¿ëÇØ¼ÒüÃàÀûº´, ¸®¼ÒÁ»ÃàÀûº´
  • non-lysosomal proteinase
    ºñ¿ëÇØ¼Òü´Ü¹éºÐÇØÈ¿¼Ò, ºñ¸®¼ÒÁ»´Ü¹éºÐÇØÈ¿¼Ò
  • inborn
    ¼±Ãµ-, Ÿ°í³­-
  • inborn errors of metabolism
    ¼±Ãµ´ë»çÀå¾Ö
  • inborn reflex
    ¼±Ãµ¹Ý»ç
  • anti-GBM disease
    Ç×GBMº´
  • arteriosclerotic cardiovascular disease
    µ¿¸Æ°æÈ­½É(Àå)Ç÷°üº´
  • arteriosclerotic heart disease
    µ¿¸Æ°æÈ­½ÉÀ庴
  • arthropod-borne viral disease
    ÀýÁöµ¿¹°¸Å°³¹ÙÀÌ·¯½ºº´
  • autoallergic disease
    ÀÚ°¡¾Ë·¹¸£±âº´
  • autoimmune disease
    ÀÚ°¡¸é¿ªÁúȯ
  • autoimmune inner ear disease
    ÀÚ°¡¸é¿ª¼Ó±Íº´, ÀÚ°¡¸é¿ª³»ÀÌÁúȯ
  • aviator¡¯s disease
    ºñÇà»çº´
  • acquired cystic kidney disease
    ÈÄõ³¶¼ºÄáÆÏº´, ÈÄõ³¶¼º½ÅÀ庴
  • Addison¡¯s disease
    ¾Öµð½¼º´
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • inborn errors of metabolism
    ¼±Ãµ´ë»çÀå¾Ö
  • anemia of chronic disease
    ¸¸¼ºº´ºóÇ÷
  • disease
    º´, Áúȯ, Áúº´
  • adult disease
    (¢¡life style disease) »ýȰ½À°üº´
  • Alzheimer disease
    ¾ËÃ÷ÇÏÀ̸Ӻ´
  • Behcet's disease
    º£Ã¼Æ®º´
  • Buerger's disease
    (¢¡ thromboangiitis obliterans) Æó¼âÇ÷ÀüÇ÷°ü¿°
  • cerebrovascular disease
    ³úÇ÷°üº´, ³úÇ÷°üÁúȯ
  • congenital heart disease
    ¼±Ãµ½ÉÀ庴
  • Crohn's disease
    Å©·Ðº´
  • Cushing's disease
    Äí½Ìº´
  • de Quervain's disease
    µåÄõº£Àκ´
  • degenerative disease
    ÅðÇິ
  • fibrocystic disease
    ¼¶À¯³¶º´
  • glomerular disease
    Å丮º´, »ç±¸Ã¼Áúȯ
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • lysosomal storage disease
    ¸®¼Ò¼ØÃàÀûº´, ¿ëÇØ¼ÒüÃàÀûº´
  • non-lysosomal proteinase
    ºñ¸®¼Ò¼Ø´Ü¹éºÐÇØÈ¿¼Ò
  • inborn error
    ¼±ÃµÀÌ»ó
  • inborn
    ¼±Ãµ-, Ÿ°í³­-
  • inborn reflex
    (¢¡unconditioned reflex) ¹«Á¶°Ç¹Ý»ç
  • accumulation disease
    ÃàÀûº´
  • acquired cystic kidney disease
    ÈÄõ³¶¼ºÄáÆÏº´
  • acute infectious disease
    ±Þ¼º°¨¿°º´
  • adult disease
    ¼ºÀκ´
  • aircraft disease
    (¢¡aviator's disease) Ç×°øº´
  • alkali disease
    ¾ËÄ®¸®º´
  • allergic disease
    ¾Ë·¹¸£±âº´
  • aluminium dust disease
    ¾Ë·ç¹Ì´½°¡·çº´
  • alveoar hydatid disease
    ²Ê¸®ÇüÆ÷Ãæº´, ´Ù¹æÆ÷Ãæº´
  • arteriosclerotic cardiovascular disease
    µ¿¸Æ°æÈ­½ÉÀåÇ÷°üº´
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • Lysosomal membrane
    ¶óÀ̼Ҽظ·(¡­Ø­)
  • inborn
    ¼±Ãµ¼º(à»ô¸àõ)ÀÇ.
  • inborn error
    ¼±Ãµ¼º ÀÌ»ó(¡­ì¶ßÈ).
  • inborn error of metabolism
    ¼±Ãµ¼º ´ë»çÀÌ»ó(Áõ)(¡­ÓÛÞóì¶ßÈñø).
  • inborn error of metabolism
    ¼±Ãµ¼º´ë»çÀÌ»ó(à»ô¸àõÓÛÞóì¶ßÈ)
  • inborn immunity
    ¼±Ãµ(¼º) ¸é¿ª.
  • inborn reflex
    ¼±Ãµ¼º ¹Ý»ç.
  • inborn variation
    ¼±Ãµ¼º º¯ÀÌ.
  • ABO hemolytic disease
    ABO ¿ëÇ÷¼º Áúȯ(¡­éÁúìàõ òðü´)
  • ABO hemolytic disease of the newborn
    ½Å»ý¾Æ ABO ¿ëÇ÷¼ºÁúȯ
  • Addisons disease
    ¾Æµð¼Õ º´
  • Addisons disease
    ¾Öµð½¼º´ ºÎ½Å±â´ÉºÎÀü .
  • Aleutian mink disease virus
    ¾Ë·ù»ê¹ÖÅ©º´ ¹ÙÀÌ·¯½º
  • Alport s disease
    ¾ËÆ÷¿ÀÆ®º´.
  • Alzheimer disease
    ¾ËÂêÇÏÀÌ¸Ó Áúȯ
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • lysosomal storage disease
    ¸®¼Ò¼Ø ÃàÀûÁõ
  • inborn
    ¼±Ãµ¼º(à»ô¸àõ)ÀÇ.
  • inborn error
    ¼±Ãµ¼º ÀÌ»ó(¡­ì¶ßÈ).
  • inborn error of metabolism
    ¼±Ãµ¼º ´ë»çÀÌ»ó(Áõ)(¡­ÓÛÞóì¶ßÈñø).
  • inborn error of metabolism
    ¼±Ãµ¼º´ë»çÀÌ»ó(à»ô¸àõÓÛÞóì¶ßÈ)
  • inborn immunity
    ¼±Ãµ(¼º) ¸é¿ª.
  • inborn reflex
    ¼±Ãµ¼º ¹Ý»ç.
  • inborn variation
    ¼±Ãµ¼º º¯ÀÌ.
  • inflammation,lysosomal constituents
    ¸®¼Ò¼Ø(¿ëÇØ¼Òü)((éÁú°á³ô÷) à÷ÝÂ)
  • lysosomal acid phosphatase
    ¸®¼Ò¼Ø¼º »ê ÀλêÈ¿¼Ò(¡­àõ ß« ×òß«ý£áÈ)
  • lysosomal enzymes
    ¸®¼Ò¼Ø¼º È¿¼Ò(¡­ ý£áÈ)
  • lysosomal granule
    ¸®¼Ò¼Ø °ú¸³
  • lysosomal storage diseaes
    ¸®¼Ò¼Ø¼º ÃàÀûº´(¡­ õëîÝÜ»)
  • non-lysosomal proteinase
    ºñ¸®¼Ò¼Ø¼º ´Ü¹éºÐÇØÈ¿¼Ò(¡­àõ Ó±ÛÜÝÂú°ý£áÈ)
  • blood disease =hemic disease
    Ç÷¾×Áúȯ(Ì´Ëâ̷̤).
´ëÇѱâ»ýÃæÇÐȸ ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 12 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • arthropod-borne disease
    ÀýÁöµ¿¹°¸Å°³Áúº´
  • Chagas' disease
    »þ°¡½ºº´
  • endemic disease
    dzÅ亴
  • enzootic disease
    µ¿¹°ÅäÂøº´
  • helminthic disease
    ¿¬ÃæÁúȯ
  • hookworm disease
    ±¸Ã溴
  • hydatid disease
    Æ÷Ãæº´
  • insect borne disease
    °ïÃæ¸Å°³Áúȯ
  • metazoal disease
    ÈÄ»ýµ¿¹°Áúȯ
  • parasitic disease
    ±â»ýÃæº´
  • protozoan disease
    ¿øÃæÁúȯ, ¿øÃ溴
  • tropical disease
    ¿­´ëº´, ¿­´ëÁúȯ
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • lysosomal disease
    ¶óÀ̼ÒÁ»Áúȯ(òðü´)
  • lysosomal storage disease
    ¶óÀ̼ÒÁ»³»(Ò®) ÀúÀåÁúȯ(îÍíúòðü´)
  • inborn error of metabolism
    ¼±Ãµ¼º ´ë»çÀÌ»ó(à»ô¸àõÓÛÞóì¶ßÈ)
  • familial lysosomal lipase deficiency
    °¡Á·¼º(Ê«ðéàõ) ¶óÀÌ¼Ò¼Ø ¶óÀÌÆäÀ̽º °áÇÌ(ÌÀù¹)
  • Addison's disease
    ¿¡µð¼Õ º´(Ü»)
  • alkali disease
    ¾ËÄ®¸®¼ºÁúȯ(òðü´)
  • allogeneic disease
    µ¿Á¾ÀÌÀÎÀÚÇü Áúȯ(ÔÒðúì¶ì×í­úþ òðü´)
  • Alzheimer disease
    ¾ËÁîÇÏÀÌ¸Ó º´(Ü»)
  • Andersen's disease
    ¾Èµ¥¸£¼¾º´(Ü»)
  • autoallergic disease
    ÀÚ°¡(í»Ê«)¾Ë·¹¸£±â Áúȯ(òðü´)
  • autoimmune disease
    ÀÚ°¡¸é¿ªÁúȯ (í»Ê«Øóæ¹òðü´)
  • Christmas disease
    Å©¸®½º¸¶½ºÁúȯ(òðü´)
  • Cori's disease
    ÄÚ¸® Áúȯ(òðü´) (ÔÒ) glycogen storage disease type III
  • Cushing's disease
    Äí½Ì Áúȯ(òðü´)
  • cytogenetic disease
    ¼¼Æ÷À¯ÀüÁúȯ(á¬øàë¶îîòðü´)
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • inborn
    ¼±Ãµ¼ºÀÇ
  • inborn error
    ¼±Ãµ¼º ÀÌ»ó
  • acquired heart disease
    ÈÄõ¼º½ÉÀåÁúȯ
  • Addison's disease
    ¾Öµð½¼º´
  • air space disease
    °ø°£Áúȯ
  • caisson disease
    ÀáÇÔº´
  • celiac disease
    ¼Ò¾Æ¸¸¼º¼ÒÈ­Àå¾ÖÁõ, ¼Ò¾ÆÁö¹æº¯Áõ, º¹ºÎÁúº´
  • cerebral vascular disease
    ³úÇ÷°üÁúȯ
  • Charcot's disease
    »þ¸£ÄÚº´
  • collagen disease
    ±³¿øÁúº´
  • communicable disease
    Àü¿°º´
  • constitutional disease
    üÁú¼ºÁúȯ
  • coronary heart disease
    °ü»óµ¿¸Æ½ÉÁúȯ
  • Crohn's disease
    Å©·Ðº´
  • Crouzon's disease
    µÎ°³¾È¸éȸ°ñºÎÀüÁõ, Å©·çÁ¸º´
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
CD cadaver donor; canine distemper; canine dose; carbohydrate dehydratase; carbon dioxide; cardiac dise...
HD Haab-Dimmer [syndrome]; Hajna-Damon [broth]; Hansen disease; hearing distance; heart disease; helix ...
MD Doctor of Medicine [Lat. Medicinae Doctor]; magnesium deficiency; main duct; maintenance dose; major...
IEM immuno-electron microscopy; inborn error of metabolism
LAL left axillary line; Limulus amebocyte lysate; low air loss; lysosomal acid lipase
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
IEM Inborn Errors of Metabolism
LAL Lysosomal acid lipase
LAP Lysosomal acid phosphatase
LSD Lysosomal storage diseases
ML mitochondrial lysosomal
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • lysosomal enzyme
    ¸®¼ÒÁ» È¿¼Ò, ¿ëÇØ ¼Òü È¿¼Ò
  • inborn error
    ¼±Ãµ¼º ÀÌ»ó
    ¼±ÃµÀûÀÎ ±¸Á¶ ¹× ±â´É¿¡ À־ÀÇ °áÇÔ.
  • inborn immunity
    ¼±Ãµ¼º ¸é¿ª
    °³Ã¼ÀÇ À¯ÀüÀû ¼ÒÁú¿¡ ±âÀÎÇÏ´Â ¸é¿ª.
  • kufs's disease °¡Á·¼º Èæ³»À强 ¹éÄ¡ÀÇ ¸¸¹ß¼º ¿¬¼ÒÇüÀÌ´Ù.

    Kugelberg-Welander disease ±Ù À§ÃàÁõÀÇ À¯Àü¼º ¿¬¼ÒÇüÀ¸·Î¼­ º¸Åë »ó¿°»öü¼º ¿­¼º ÇüÁú·Î À¯ÀüµÈ´Ù. ô¼ö Àü°¢ÀÇ º´º¯ÀÌ ±× ¿øÀÎÀÌ´Ù.

    kukuruku ¿øÀÎ ºÒ¸íÀ̸ç, ³ªÀÌÁö¸®¾Æ¿¡¼­ º¼ ¼ö ÀÖ´Â ÁúȯÀ¸·Î, ¿­

    °£Àå ´ë½Ä ¼¼Æ÷
  • Acosta's disease
    ¾ÆÄÚ½ºÅ¸º´
    µ¿ÀǾî=acute mountain sickness.
  • acquired cystic disease
    ÈÄõ¼º ³¶¼º Áúȯ
  • acquired heart disease
    ÈÄõ¼º ½É Áúȯ
    »ýÈÄ¿¡ ¾ò¾îÁø ½ÉÀå Áúȯ.
  • acute demyelinating disease
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  • acute infectious disease
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  • adrenal cortex disease
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  • adult celiac disease
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  • African sleeping disease
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  • air space disease
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CancerWEB ¿µ¿µ ÀÇÇлçÀü ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
inborn lysosomal disease Inherited disorder of one or more degradative enzymes normally located in lysosomes leading to accumulation (storage) of abnormal quantities of a substance, such as a glycosaminoglycan as in Hurler's syndrome or a lipopolysaccharide as in Gaucher's disease.
(05 Mar 2000)
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
lysosomal disease A disease due to inadequate functioning of a lysosomal enzyme; most such disease's are associated with a storage disease.
(05 Mar 2000)
UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase <enzyme> Fibroblasts from patients with i-cell (mucolipidosis II) and pseudo-hurler polydystrophy (mucolipidosis III) are deficient in above enzyme; for n-acetylglucosamine transferred to dolichyl phosphate see EC 2.7.8.15
Registry number: EC 2.7.8.17
Synonym: udpgnac gp gnac phosphotransferase, udpgnac phosphotransferase, uridine 5'-diphosphate-n-acetylglucosamine glycoprotein n-acetylglucosaminylphosphotransferase, n-acetylglucosamine-1-phosphotransferase, n-agapt, udp-n-acetylglucosamine-lysosomal glycoprotein n-acetylglucosaminylphosphotransferase, udp-acetylglucosamine-glycoprotein n-acetylglucosamine-1-phosphotransferase
(26 Jun 1999)
UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase <enzyme> An enzyme that participates in the posttranslational modification of a number of lysosomal proteins; a deficiency or defect in this enzyme results in two forms of mucolipidoses, I-cell disease, and pseudo-Hurler polydystrophy.
(05 Mar 2000)
lysosomal diseases Diseases (also called storage diseases) in which a deficiency of a particular lysosomal enzyme leads to accumulation of the undigested substrate for that enzyme within cells. Not immediately fatal, but within a few years lead to serious neurological and skeletal disorders and eventually to death.
See: the following conditions: Hurler sundrome, Hunter syndrome, San Fillipo, Gaucher's disease, Niemann-Pick, Pompe's disease, Tay Sachs disease.
(18 Nov 1997)
lysosomal enzyme <biochemistry> A range of degradative enzymes, most of which operate best at acid pH. The best known marker enzymes are acid phosphatase and glucuronidase, but many others are known.
(18 Nov 1997)
lysosomal storage diseases Inborn errors of metabolism characterised by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolised substrates.
(12 Dec 1998)
renal tubular transport, inborn errors Genetically determined disorders of the reabsorptive functions of the kidney with regard to specific nephron segments responsible for specific transport functions, classifiable by proximal nephron function, loop of henle function, and distal nephron function. The transport defects can be selective or nonselective.
(12 Dec 1998)
pyruvate metabolism, inborn errors Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.
(12 Dec 1998)
inborn Born in or with; implanted by nature; innate; as, inborn passions.
Synonym: Innate, inherent, natural.
(27 Oct 1998)
inborn error of metabolism A genetic biochemical disorder of a specific enzyme that forms a metabolic block, e.g., phenylketonuria.
(05 Mar 2000)
inborn errors of metabolism Term coined by A. Garrod in 1908 applying to heritable disorders of biochemistry. Examples include albinism, cystinuria (a cause of kidney stones) and phenylketonuria (pku) are a few of the hundreds of inborn errors of metabolism.
(12 Dec 1998)
inborn reflex A reflex such as breathing that is innate.
(05 Mar 2000)
fructose metabolism, inborn errors Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosaemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
(12 Dec 1998)
aaa disease Endemic anaemia of ancient Egypt, ascribed in the Papyrus Ebers to intestinal infestation with ancylostoma; now called ancylostomiasis.
(05 Mar 2000)
ABO haemolytic disease of the newborn Erythroblastosis foetalis due to maternal-foetal incompatibility with respect to an antigen of the ABO blood group; the foetus possesses A or B antigen which is lacking in the mother, and the mother produces immune antibody which causes haemolysis of foetal erythrocytes.
(05 Mar 2000)
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