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"familial lysosomal lipase deficiency"¿¡ ´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 : 1 ÆäÀÌÁö: 1
¿µ¹® iron deficiency anemia ÇÑ±Û Ã¶°áÇ̺óÇ÷
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  ÀûÇ÷±¸ÀÇ ±â´ÉÀº »ê¼Ò¸¦ ¿î¹ÝÇϴµ¥ ÀÖ´Ù. ÀûÇ÷±¸ ¼Ó¿¡ »ê¼Ò¿Í °áÇÕÀ» ÇÏ¿© »ê¼Ò¸¦ ¿î¹ÝÇϴ Ç÷»ö¼Ò¶ó´Â ¹°ÁúÀÌ ÀÖ´Ù. Ã¶Àº ÀÌ Ç÷»ö¼ÒÀÇ Áß¿äÇÑ ºÎºÐÀ» ÀÌ·ç´Â °ÍÀ¸·Î Ã¶ÀÌ ¾øÀ¸¸é Ç÷»ö¼Ò°¡ ¸¸µé¾îÁú ¼ö°¡ ¾ø´Ù. Ç÷»ö¼Ò°¡ ¾øÀ¸¸é ¿ª½Ã ÀûÇ÷±¸µµ ¸¸µé¾îÁöÁö ¾ÊÀ¸¹Ç·Î Ã¼³»¿¡ Ã¶ÀÌ ºÎÁ·Çϸ頺óÇ÷ÀÌ »ý±ä´Ù. À̠ö°áÇ̼º ºóÇ÷Àº ºóÇ÷ÀÇ ¿øÀΠÁß¿¡¼­ °¡Àå ÈçÇÑ °ÍÀÌ´Ù(¾à 25%¸¦ Â÷ÁöÇÑ´Ù). Ã¶ÀúÀå·®ÀÇ ÀúÇÏ-°áÇÌ, Ç÷ûö³óµµÀÇ ÀúÇÏ, Æ®¶õ½ºÆä¸°·® »ó½Â, Æ®¶õ½ºÆä¸°Æ÷È­µµÀÇ ÀúÇÏ, Ç÷»ö¼Ò³óµµ ¶Ç´Â Ç츶ÅäÅ©¸®Æ®ÀÇ ÀúÇÏ, Àú»ö¼Ò¼º´ëÀûÇ÷±¸¸¦ Æ¯Â¡À¸·Î Çϴ ºóÇ÷·Î¼­, »ýü ³»¿¡¼­ Ã¶ÀÌ Àå±â¿¡ °ÉÃÄ °áÇ̵Ǹ砱נ¶§¹®¿¡ Ç÷»ö¼Ò »ý»ê °¨¼Ò¿¡ ÀÇÇØ ÀϾ´Ù. Ã¢ÀÚ¿¡¼­ÀǠöÈí¼ö·® ºÎÁ·, Ã¶ÀÇ ¼ö¿ä Áõ´ë(À¯¾Æ±â, »çÃá±â, ÀÓ½Å), Ã¶¼Ò½Ç°úÀ×(ÃâÇ÷)¿¡ ÀÇÇØ ÀϾ¸ç, Æ¯È÷ »çÃá±â¿¡¼­ Æó°æ±â±îÁöÀÇ ¿©¼º¿¡°Ô ¸¹´Ù. Áõ»óÀ¸·Î¼­´Â ¾ó±¼Ã¢¹é, ÇǷΰ¨, ÇǺÎâ¹é, ¼ÕÅé º¯È­(½ºÇ¬ ¸ð¾ç) µîÀ» ³ªÅ¸³½´Ù. ±¸°­ ¿µ¿ª¿¡¼­´Â ÇôÀÇ Á¢ÃËÅë, ¹ßÀû, °ÇÁ¶°¨, »ïÅ´°ï¶õÀ» ¼ö¹ÝÇϸé Ç÷¯¸Ó-ºó½¼(Plummer-Vinson)ÁõÈıºÀ̶ó°í ÇÑ´Ù. Ç÷¾× ¼Ò°ßÀº Ç÷ûöÀº ÀúÇÏÇϸç, Ã¶°áÇÕ´É·ÂÀÇ »ó½Â, Àú»ö¼Ò¼º ÀÛÀºÀûÇ÷±¸¼ºÀ» ³ªÅ¸³½´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
  • acid lipase
    »ê¼ºÁöÁúºÐÇØÈ¿¼Ò
  • lipase
    ÁöÁúºÐÇØÈ¿¼Ò, ¸®ÆÄÁ¦
  • lipoprotein lipase
    ÁöÁú´Ü¹éÁöÁúºÐÇØÈ¿¼Ò
  • acquired immune deficiency syndrome
    ÈÄõ¸é¿ª°áÇÌÁõÈıº, ¿¡ÀÌÁî
  • biotin deficiency syndrome
    ºñ¿Àƾ°áÇÌÁõÈıº
  • deficiency
    1. °áÇÌ 2. °áÇÌÁõ
  • deficiency disease
    °áÇ̺´
  • erythropoietin deficiency anemia
    ¿¡¸®Æ®·ÎÆ÷ÀÌ¿¡Æ¾°áÇ̺óÇ÷
  • fat deficiency disease
    Áö¹æ°áÇ̺´
  • folate deficiency anemia
    ¿±»ê°áÇ̺óÇ÷
  • iron deficiency anemia
    ö°áÇ̺óÇ÷
  • immune deficiency
    ¸é¿ª°áÇÌ
  • leukocyte adhesion deficiency
    ¹éÇ÷±¸ºÎÂø°áÇÌ
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 4 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • lipase
    ÁöÁúºÐÇØÈ¿¼Ò
  • familial adenomatous polyposis
    °¡Á·¼ºÅ«Ã¢ÀÚÆú¸³Áõ, °¡Á·¼º´ëÀåÆú¸³Áõ
  • iron deficiency anemia
    ö°áÇ̺óÇ÷
  • deficiency
    °áÇÌ(Áõ)
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • acid lipase deficiency
    »ê¼ºÁöÁúºÐÇØÈ¿¼Ò°áÇÌ
  • lysosomal storage disease
    ¸®¼Ò¼ØÃàÀûº´, ¿ëÇØ¼ÒüÃàÀûº´
  • lipase
    ÁöÁúºÐÇØÈ¿¼Ò
  • non-lysosomal proteinase
    ºñ¸®¼Ò¼Ø´Ü¹éºÐÇØÈ¿¼Ò
  • acholuric familial jaundice
    (¢¡hereditary spherocytosis) À¯ÀüµÕ±ÙÀûÇ÷±¸Áõ, À¯Àü±¸ÇüÀûÇ÷±¸
  • familial cardiomyopathy
    °¡Á·½ÉÀå±ÙÀ°º´Áõ
  • familial dyskeratotic comedo
    °¡Á·°¢È­ÀÌ»ó¸éÆ÷
  • familial dysautonomia
    °¡Á·ÀÚÀ²½Å°æ±â´ÉÀÌ»ó
  • endogenous familial hypertriglyceridemia
    ³»Àΰ¡Á·°íÁß¼ºÁö¹æÇ÷Áõ
  • familial eosinophilia
    °¡Á·È£»ê±¸Áõ°¡Áõ
  • familial annulare erythema
    °¡Á·À±»óÈ«¹Ý, °¡Á·°í¸®È«¹Ý
  • familial pigmented purpuric eruption
    °¡Á·»ö¼ÒÀڹݹßÁø
  • familial
    °¡Á·-
  • familial hyperlipoproteinemia
    °¡Á·°íÁö¹æ´Ü¹éÇ÷Áõ
  • familial hyperuricemia
    °¡Á·°í´¢»êÇ÷Áõ
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • acid lipase deficiency
    »ê¼º ¸®ÆÄÁ¦ °áÇÌÁõ(ß«àõ¡­ÌÀù¹ñø)
  • Lysosomal membrane
    ¶óÀ̼Ҽظ·(¡­Ø­)
  • Lipase
    Áö¹æºÐÇØÈ¿¼Ò(ò·Û¸ÝÂú°ý£áÈ), ¶óÀÌÆäÀÌÁî
  • Lipoprotein lipase
    Áö´Ü¹é(ò·Ó±ÛÜ) Áö¹æºÐÇØÈ¿¼Ò(ò·Û¸ÝÂú°ý£áÈ)
  • gastric lipase
    À§¸®ÆÄÁ¦
  • hepatic lipase
    °£¸®ÆÄÁ¦
  • hepatic triglyceride lipase
    °£Áß¼ºÁö¹æ<Æ®¸®±Û¸®¼¼¶óÀ̵å>¸®ÆÄÁ¦
  • hepatic triglyceride lipase absence
    °£Áß¼ºÁö¹æ ¸®ÆÄÁ¦°á¿©(Áõ)
  • Familial hypercholesterolemia
    °¡Á·¼º(Ê«ðéàõ) °í(ÍÔ)ÄÝ·¹½ºÅ×·ÑÇ÷Áõ(úìñø)
  • Hailey-Hailey disease = familial benign chronic pemphigus
    ÇìÀϸ®-ÇìÀϸ®º´
  • amaurotic familial idiocy =Tay-Sachs disease
    °¡Á·¼ºÈæ¾Ï½Ã¹éÄ¡(Ê«ðéàõýÙÒ®î¡ÛÜöÁ).
  • amaurotic familial idiocy =Tay-Sachs disease
    °¡Á·¼º Èæ³»Àå ¹éÄ¡(Ê«ðéàõýÙÒ®î¡ÛÜöÁ).
  • hearing loss, familial pregressive
    °¡Á· ÁøÇà(¼º) ³­Ã»
  • hyperbilirubinemia,asymptomatric familial
    ¹«ÁõÈÄ °¡Á·¼º(Ùíñøý¦ Ê«ðéàõ)
  • hypercholesterolemia,familial
    °¡Á·¼º(Ê«ðéàõ)
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • acid lipase deficiency
    »ê¼º ¸®ÆÄÁ¦ °áÇÌÁõ(ß«àõ¡­ÌÀù¹ñø)
  • lipoprotein lipase deficiency
    Áö´Ü¹é¸®ÆÄÁ¦°áÇÌ(Áõ)
  • 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»)
  • lysosomal storage disease
    ¸®¼Ò¼Ø ÃàÀûÁõ
  • non-lysosomal proteinase
    ºñ¸®¼Ò¼Ø¼º ´Ü¹éºÐÇØÈ¿¼Ò(¡­àõ Ó±ÛÜÝÂú°ý£áÈ)
  • familial apolipoprotein CII deficiency
    °¡Á·¼º ¾ÆÆ÷Áö¹æ´Ü¹é CII °áÇÌÁõ
  • co-lipase
    ÄÚ-¸®ÆÄÁ¦
  • enteric lipase
    ¼ÒÀ帮ÆÄ¾ÆÁ¦.
  • gastric lipase
    À§¸®ÆÄÁ¦
  • hepatic lipase
    °£¸®ÆÄÁ¦
  • hepatic triglyceride lipase
    °£Áß¼ºÁö¹æ<Æ®¸®±Û¸®¼¼¶óÀ̵å>¸®ÆÄÁ¦
´ëÇÑÇØºÎÇÐȸ ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • Deficiency (Nanismus)
    °áÇÌ(³­ÀåÀÌÁõ)
    [¿¾ ¿ë¾î] °áÇÌ
  • Organogenetic deficiency
    ±â°ü¹ß»ý°áÇÌ
    [¿¾ ¿ë¾î] ±â°ü¹ß»ý°áÇÌ
  • Functional deficiency
    ±â´É°áÇÌ
    [¿¾ ¿ë¾î] ±â´ÉÀû°áÇÌ
  • Pituitary hormone deficiency (Pituitary dwarfism)
    ³úÇϼöüȣ¸£¸ó°áÇÌ (³úÇϼöü³­ÀåÀÌ)
    [¿¾ ¿ë¾î] ³úÇϼöüȣ¸£¸ó°áÇÌ (³úÇϼöü³­ÀåÀÌ)
  • Reaction deficiency
    ¹ÝÀÀ°áÇÌ
    [¿¾ ¿ë¾î] ¹ÝÀÀ°áÇÌ
  • Vitamin deficiency (Fetal osteodystrophy)
    ºñŸ¹Î°áÇÌ(žƻÀ¿µ¾çÀå¾Ö)
    [¿¾ ¿ë¾î] ºñŸ¹Î°áÇÌ(žƻÀ¿µ¾çÀå¾Ö)
  • Cellular deficiency (Acallosal cerebrum)
    ¼¼Æ÷°áÇÌ (³úµéº¸°á¿©³ú)
    [¿¾ ¿ë¾î] ¼¼Æ÷°áÇÌ
  • Intracellular deficiency (Albinism)
    ¼¼Æ÷¼Ó°áÇÌ (¹é»öÁõ)
    [¿¾ ¿ë¾î] ¼¼Æ÷³»°áÇÌ
  • Chromosomal deficiency
    ¿°»öü°áÇÌ
    [¿¾ ¿ë¾î] ¿°»öü°á½Ç
  • Stimulation deficiency
    ÀڱذáÇÌ
    [¿¾ ¿ë¾î] ÀڱذáÇÌ
  • Sensory deficiency
    °¨°¢°áÇÌ
    [¿¾ ¿ë¾î] °¨°¢°áÇÌ
  • Thyroid hormone deficiency (Cretinism)
    °©»ó»ùÈ£¸£¸ó°áÇÌ (°©»ó»ù³­ÀåÀÌ)
    [¿¾ ¿ë¾î] °©»ó¼±È£¸£¸ó°áÇÌ (°©»ó»ù³­ÀåÀÌ)
  • Deficiency
    °áÇÌ
    [¿¾ ¿ë¾î] °áÇÌ
  • Deficiency (Monstrous tumor)
    °áÇÌ (±«¹°Á¾)
    [¿¾ ¿ë¾î] °áÇÌ
  • Secretion deficiency
    ºÐºñ°áÇÌ
    [¿¾ ¿ë¾î] ºÐºñ°áÇÌ
´ëÇѱâ»ýÃæÇÐȸ ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • familial aggregation
    °¡Á·ÁýÀû¼º
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • familial lysosomal lipase deficiency
    °¡Á·¼º(Ê«ðéàõ) ¶óÀÌ¼Ò¼Ø ¶óÀÌÆäÀ̽º °áÇÌ(ÌÀù¹)
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • familial high-density lipoprotein deficiency °¡Á·¼º °í¹Ðµµ ÁöÁú´Ü¹éÁú °áÇÌ (Ê«ðéàõÍÔÚËÓøò·òõ
    Ó±ÛÜòõÌÀù¹)
  • lysosomal disease
    ¶óÀ̼ÒÁ»Áúȯ(òðü´)
  • lysosomal storage disease
    ¶óÀ̼ÒÁ»³»(Ò®) ÀúÀåÁúȯ(îÍíúòðü´)
  • familial hypercholesterolemia
    °¡Á·¼º(Ê«ðéàõ) °ú(Φ)ÄÝ·¹½ºÅ×·ÑÇ÷Áõ(úìñø)
  • familial methemoglobinemia
    °¡Á·¼º(Ê«ðéàõ) ¸ÞÅ׸ð±Û·ÎºóÇ÷Áõ(úìñø)
  • lipase
    ¶óÀÌÆäÀ̽º
  • lipoprotein lipase
    ÁöÁú´Ü¹éÁú(ò·òõÓ±ÛÜòõ) ¶óÀÌÆäÀ̽º
  • mobilizing lipase
    µ¿¿ø(ÔÑê¬)¶óÀÌÆäÀ̽º
  • conditioned vitamin deficiency
    Á¶°ÇºÎ(ðÉËìݾ) ºñŸ¹Î°áÇË(ÌÀù¹)
  • deficiency
    °áÇÌ(ÌÀù¹)
  • deficiency disease
    °áÇÌ Áúȯ(ÌÀù¹òðü´)
  • deficiency mutant
    "°áÇÌ º¯ÀÌü(ÌÀù¹Ü¨ì¶ô÷), (ÔÒ) auxotroph"
  • dietary deficiency
    ½ÄÀ̰áÇÌ(ç½å×ÌÀù¹)
  • glucose-6-phosphate dehydrogenase deficiency
    ±Û·çÄÚ½º-6-Àλê(×òß«) µðÇÏÀ̵å·ÎÀú³×À̽º °áÇÌ(ÌÀ
  • primary deficiency
    ¿ø¹ß¼º °áÇÌ(ê«Û¡àõÌÀù¹)
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 8 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • familial
    °¡Á·¼ºÀÇ
  • familial polyposis
    °¡Á·¼ºÆú¸³Áõ
  • deficiency
    °áÇÌÁõ
  • deficiency anemia
    °áÇ̼ººóÇ÷
  • iron deficiency anemia
    ö°áÇ̼ººóÇ÷
  • mineral deficiency
    ¹«±âÁú°áÇÌ(Áõ)
  • nutritional deficiency disease
    ¿µ¾ç°áÇÌÁõ
  • vitamin deficiency
    ºñŸ¹Î°áÇÌ(Áõ)
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
LAL left axillary line; Limulus amebocyte lysate; low air loss; lysosomal acid lipase
MD Doctor of Medicine [Lat. Medicinae Doctor]; magnesium deficiency; main duct; maintenance dose; major...
FHH Familial Hypocalciuric Hypercalcemia
  = Familial Benign Hypercalcemia
FAD familial Alzheimer dementia; familial autonomic dysfunction; fetal activity-acceleration determinati...
FAP familial adenomatous polyposis; familial amyloid polyneuropathy; fatty acid polyunsaturated; fatty a...
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
LAL Lysosomal acid lipase
LAP Lysosomal acid phosphatase
LSD Lysosomal storage diseases
ML mitochondrial lysosomal
ATLPL Adipose tissue lipoprotein lipase
°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
  • lipase
    Áö¹æ ºÐÇØ È¿¼Ò, ¸®ÆÄÁ¦, ¸®ÆÄ¾ÆÁ¦
    1. °£, ÃéÀå, À§ ¹× ±× ¹ÛÀÇ ¼ÒÈ­ ±â°ü ¶Ç´Â ¾î¶² Á¾·ùÀÇ ½Ä¹°¿¡ µé¾îÀÖ´Â ¿¡½ºÅ×¶óÁ¦. 2. ±Û¸®¼¼¸° ¿¡½ºÅÍ °¡¼öºÐÇØ È¿¼Ò. Æ®¶óÀÌ ±Û¸®¼¼¶óÀÌµå ¹× ÀÎ ÁöÁúÀÇ Áö¹æ»ê°ú ±Û¸®¼¼¸° »çÀÌÀÇ ¿¡½ºÅÍ °áÇÕÀ» °¡¼öºÐÇØÇÏ´Â °ÍÀ» Ã˸ÅÇÏ´Â ±¤¹üÀ§ÇÏ°Ô Á¸ÀçÇÏ´Â È¿¼Ò±º. 3. Áö¹æÀ» Áö¹æ»ê°ú ±Û¸®¼¼·Ñ·Î °¡¼öºÐÇØÇÏ´Â È¿¼Ò. ¸®ÆÄ¾ÆÁ¦´Â µ¿¹°ÀÇ ¼ÒÈ­ È¿¼Ò·Î¼­ À§ ¾×, ÀÌÀÚ ¾×, Àå¾× ¼Ó¿¡ ºÐºñµÇ°í Æó, ½ÅÀå, ºÎ½Å, Áö¹æ Á¶Á÷, ÅÂ¹Ý µîÀÇ °¢Á¾ Á¶Á÷¿¡µµ ÀÖÀ¸¸ç, ½Ä¹°¿¡¼­´Â ¹Ð, ¾ÆÁֱ, Äá µîÀÇ Á¾ÀÚ¿Í °õÆÎÀÌ, È¿¸ð, ¼¼±Õ µî¿¡µµ ³Î¸® µé¾î ÀÖ°í, ¿ìµÎ ¹ÙÀÌ·¯½º¿¡µµ µé¾î ÀÖ´Ù. ±× ¹Û¿¡ Ư¼öÇÑ ¸®ÆÄ¾ÆÁ¦·Î¼­´Â ¸®Æ÷ ´Ü¹éÁú ¸®ÆÄ¾ÆÁ¦°¡ µ¿¹°ÀÇ Ç÷¾× µî¿¡ Á¸ÀçÇϸ鼭 ¸®Æ÷ ´Ü¹éÁúÀ» Çü¼ºÇÏ´Â Áß¼º Áö¹æ¿¡ Àß ÀÛ¿ëÇÑ´Ù. ÇìÆÄ¸°¿¡ ÀÇÇØ ÀÌ È¿¼Ò°¡ Ȱ¼ºÈ­µÈ´Ù. ¸®ÆÄ¾ÆÁ¦´Â Áß¼º Áö¹æ¿¡ ÀÛ¿ëÇÏ¿© Æ®¸®¾Æ½Ç ±Û¸®¼¼¸®µå¿¡¼­ µð¾Æ½Ç ±Û¸®¼¼¸®µå¿Í ¸ð³ë¾Æ½Ç ±Û¸®¼¼¸®µå¸¦ °ÅÃļ­ Áö¹æ»ê°ú ±Û¸®¼¼¸°À¸·Î ºÐÇØÇÑ´Ù. ¼ºÁúÀº Àç·á¿¡ µû¶ó ´Ù¸£°í, ¶Ç È¿¼Ò·Î¼­ÀÇ È­ÇÐÀû Ư¡Àº ±âÁúÀÌ µÇ´Â Áß¼º Áö¹æ¿¡ µû¶ó ´Ù¸£´Ù. µ¿¹°¼º ¸®ÆÄ¾ÆÁ¦´Â
  • serum lipase
    Ç÷û ¸®ÆÄ¾ÆÁ¦
    Ãé¿°, Ãé¾Ï, Àå Æó»ö, ¾ÆÆíÁ¦ Åõ¿© ½Ã »ó½ÂÇÑ´Ù.
  • amaurotic familial idiocy
    °¡Á·¼º Èæ³»Àå ¹éÄ¡
    µ¿ÀǾî=Tay-Sach's disease.
  • asymptomatric familial hyperbilirubinemia
    ¹«ÁõÈÄ °¡Á·¼º °úºô¸®·çºóÇ÷Áõ
  • benign familial pemphigus
    ¾ç¼º °¡Á·¼º õÆ÷â
    µå¹°°Ô ¹ß»ýÇÏ´Â, À¯Àü¼ºÀ̸ç Áö¼ÓÀûÀ¸·Î Àç¹ßÀ» ¹Ýº¹ÇÏ´Â ¼ÒÆ÷¼º ¹× ÀÛÀº ¼öÆ÷¼º ÇǺο°À¸·Î, ¾×¿Í, ¼­ÇýºÎ ¹× ¸ñ ºÎÀ§¸¦ °¡Àå Àß Ä§¹üÇÏÁö¸¸, ¶§·Î´Â ±¤¹üÇÑ ºÎÀ§¸¦ ħ¹üÇÑ´Ù. º´º¯Àº ´Ù¹ß¼ºÀ̸ç, ¼öÁÖÀÏ ³»Áö ¼ö°³¿ù ÈÄ¿¡ ¼èÅðÇÑ´Ù. ÀÌ ÁúȯÀº »ó¿°»öü ¿ì¼º À¯ÀüÀ» ÇÑ´Ù.
  • familial adenomatous polyposis
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  • familial amyloid polyneuropathy
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  • familial benign chronic pemphigus
    °¡Á·¼º ¾ç¼º ¸¸¼º õÆ÷â
  • familial cold urticaria
    °¡Á·¼º Çѳà µÎµå·¯±â
  • familial cutaneous collagenosis
    °¡Á·¼º ÇǺΠ±³¿øÁõ
  • familial dysbetalipoproteinemia
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  • familial fibrous dysplasia
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  • familial genuine malfomation of root
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    µ¿ÀǾî=dentinal dys
  • familial hemolytic anemia
    °¡Á·¼º ¿ëÇ÷¼º ºóÇ÷
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
familial lipoprotein lipase deficiency An rare inherited disorder where there is a deficiency of an enzyme (lipoprotein lipase) which breaks down fat molecules, causing the accumulation of fats or lipoproteins in the blood.
Symptoms in infancy include abdominal pain (appears as if its colic), failure to thrive and skin lesions (xanthomas).
(27 Sep 1997)
lipoprotein lipase deficiency, familial A rare familial condition characterised by massive chylomicronaemia and decreased levels of other lipoproteins. It is due to deficiency of lipoprotein lipase, an alkaline triglyceride hydrolase which catalyses an important step in the extrahepatic removal of triglyceride-rich lipoproteins from the blood.
(12 Dec 1998)
familial lipoprotein lipase inhibitor An inhibitor found in certain individuals that inhibits lipoprotein lipase resulting in accumulation of chylomicrons, VLDL, and triacylglycerols; similar in symptoms to familial lipoprotein lipase deficiency.
(05 Mar 2000)
familial high density lipoprotein deficiency Familial high {density lipoprotein deficiency}; a heritable disorder of lipid metabolism characterised by almost complete absence from plasma of high density lipoproteins, and by storage of cholesterol esters in foam cells, tonsillar enlargement, an orange or yellow-gray colour of the pharyngeal and rectal mucosa, hepatosplenomegaly, lymph node enlargement, corneal opacity, and peripheral neuropathy; autosomal recessive inheritance.
Synonym: familial high {density lipoprotein deficiency}, Tangier disease.
Origin: G. An-, priv., + alpha, a, + lipoprotein + -aemia, blood
(05 Mar 2000)
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)
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 disease A disease due to inadequate functioning of a lysosomal enzyme; most such disease's are associated with a storage disease.
(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)
Aeromonas hydrophilia lipase-acyltransferase <enzyme> A member of the lipase family; a distinct group of lipolytic enzymes which have a novel active site structure
Registry number: EC 3.1.1.-
Synonym: gcat
(26 Jun 1999)
diacylglycerol lipase <enzyme> An enzyme of the hydrolase class that catalyses the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. The enzyme hydrolyzes triacylglycerols in chylomicrons, very-low-density lipoproteins, low-density lipoproteins, and diacylglycerols. It occurs on capillary endothelial surfaces, especially in mammary, muscle, and adipose tissue. Genetic deficiency of the enzyme causes familial hyperlipoproteinaemia type I.
Chemical name: Triacylglycero-protein acylhydrolase
Registry number: EC 3.1.1.34
(12 Dec 1998)
diglyceride lipase <enzyme> An enzyme of the hydrolase class that catalyses the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. The enzyme hydrolyzes triacylglycerols in chylomicrons, very-low-density lipoproteins, low-density lipoproteins, and diacylglycerols. It occurs on capillary endothelial surfaces, especially in mammary, muscle, and adipose tissue. Genetic deficiency of the enzyme causes familial hyperlipoproteinaemia type I.
Chemical name: Triacylglycero-protein acylhydrolase
Registry number: EC 3.1.1.34
(12 Dec 1998)
lipase <enzyme> An enzyme that catalyses the hydrolysis of fats (monoglycerides, diglycerides and triglycerides) to glycerol and fatty acids. Calcium ions are usually required.
(13 Nov 1997)
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