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"familial apolipoprotein CII 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
  • apolipoprotein
    ¾ÆÆ÷ÁöÁú´Ü¹éÁú
  • 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
  • nutritional deficiency disease
    ¿µ¾ç°áÇ̺´
  • nutritional deficiency state
    ¿µ¾ç°áÇÌ»óÅÂ
  • nutritional deficiency syndrome
    ¿µ¾ç°áÇÌÁõÈıº
  • vitamin deficiency
    ºñŸ¹Î°áÇÌ(Áõ)
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 3 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • 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
  • apolipoprotein
    ¾ÆÆ÷Áö¹æ´Ü¹é
  • 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
  • familial tremor
    (¢¡essential tremor) º»Å¶³¸², À¯Àü¶³¸², ¿øÀθ𸦶³¸²
  • familial adenomatous polyposis
    °¡Á·»ùÁ¾Æú¸³Áõ
  • familial paroxysmal polyserositis
    °¡Á·¹ßÀÛ´Ù¹ßÀ帷¿°
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • apolipoprotein C-Il deficiency
    ¾ÆÆ÷Áö´Ü¹é C-II °áÇÌ
  • apolipoprotein b, deficiency
    ¾ÆÆ÷¸®Æ÷´Ü¹éB°áÇÌÁõ(¡­Ó±ÛÜ¡­ÌÀù¹ñø)
  • 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)
  • idiopathic familial fibromatosis
    Ư¹ß¼º °¡Á·¼º ¼¶À¯Á¾Áõ.
  • idiopathic familial fibromatosis
    Ư¹ß¼º °¡Á·¼º ¼¶À¯Á¾Áõ
  • infantile amaurotic familial idiocy
    ¿µ¾Æ¼º Èæ³»À强 °¡Á·¼º ¹éÄ¡.
  • infantile amaurotic familial idiocy
    ¿µ¾Æ¼º Èæ³»À强 °¡Á·¼º ¹éÄ¡.
  • apolipoprotein
    ¾ÆÆ÷Áö¹æ´Ü¹é
  • apolipoprotein
    ¾ÆÆ÷Áö´Ü¹é
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • familial apolipoprotein CII deficiency
    °¡Á·¼º ¾ÆÆ÷Áö¹æ´Ü¹é CII °áÇÌÁõ
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • apolipoprotein C-Il deficiency
    ¾ÆÆ÷Áö´Ü¹é C-II °áÇÌ
  • apolipoprotein b, deficiency
    ¾ÆÆ÷¸®Æ÷´Ü¹éB°áÇÌÁõ(¡­Ó±ÛÜ¡­ÌÀù¹ñø)
  • apolipoprotein
    ¾ÆÆ÷Áö¹æ´Ü¹é
  • apolipoprotein
    ¾ÆÆ÷Áö´Ü¹é
  • apolipoprotein A
    ¾ÆÆ÷Áö´Ü¹éA
  • apolipoprotein A-1
    ¾ÆÆ÷Áö´Ü¹é A-I
  • apolipoprotein B
    ¾ÆÆ÷Áö´Ü¹é B
  • apolipoprotein B-100
    ¾ÆÆ÷Áö´Ü¹é B-100
  • apolipoprotein B-48
    ¾ÆÆ÷Áö´Ü¹é B-48
  • apolipoprotein C
    ¾ÆÆ÷Áö´Ü¹é C
  • apolipoprotein C-I
    ¾ÆÆ÷Áö´Ü¹é C-I
  • apolipoprotein C-II
    ¾ÆÆ÷Áö´Ü¹é C-II
  • apolipoprotein C-III
    ¾ÆÆ÷Áö´Ü¹é C-III
  • apolipoprotein D
    ¾ÆÆ÷Áö´Ü¹é D
  • apolipoprotein E
    ¾ÆÆ÷Áö´Ü¹é E
´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 À¯»ç °Ë»ö °á°ú : 14 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • familial high-density lipoprotein deficiency °¡Á·¼º °í¹Ðµµ ÁöÁú´Ü¹éÁú °áÇÌ (Ê«ðéàõÍÔÚËÓøò·òõ
    Ó±ÛÜòõÌÀù¹)
  • familial lysosomal lipase deficiency
    °¡Á·¼º(Ê«ðéàõ) ¶óÀÌ¼Ò¼Ø ¶óÀÌÆäÀ̽º °áÇÌ(ÌÀù¹)
  • 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)
  • 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)
  • secondary deficiency
    ÀÌÂ÷ °áÇÌ(ì£ó­ÌÀù¹)
  • simian acquired immune deficiency syndrome
    ¿ø¼þÀÌ ÈÄõ¼º¸é¿ª°áÇÌÁúȯ(ý­ô¸àõØóæ¹ÌÀù¹òðü´)
  • sulfite oxidase deficiency
    ¾ÆÈ²»ê(ä¬üÜß«) ¿Á½Ãµ¥À̽º °áÇÌ(ÌÀù¹)
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
MD Doctor of Medicine [Lat. Medicinae Doctor]; magnesium deficiency; main duct; maintenance dose; major...
CII second cranial nerve
CII Carnegie Interest Inventory
FHH Familial Hypocalciuric Hypercalcemia
  = Familial Benign Hypercalcemia
FAD familial Alzheimer dementia; familial autonomic dysfunction; fetal activity-acceleration determinati...
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
FDB Familial Defective Apolipoprotein B-100
CII Childhood Immunization Initiative
CII Collagen type II
APO E Apolipoprotein E
APO Apolipoprotein
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • 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
    °¡Á·¼º ¼±Á¾¼º ¿ëÁ¾Áõ
  • familial amyloid polyneuropathy
    °¡Á·¼º ¾Æ¹Ð·ÎÀÌµå ´Ù¹ß ½Å°æº´Áõ
  • 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
    °¡Á·¼º ÀÌ»ó º£Å¸ ¸®Æ÷ ÇÁ·ÎÅ×ÀÎ Ç÷Áõ
  • familial fibrous dysplasia
    °¡Á·¼º ¼¶À¯ ÀÌÇü¼º
  • familial genuine malfomation of root
    °¡Á·¼º ¼±Ãµ¼º Ä¡±Ù ±âÇü
    µ¿ÀǾî=dentinal dys
  • familial hemolytic anemia
    °¡Á·¼º ¿ëÇ÷¼º ºóÇ÷
  • familial histocytic dermatoarthritis
    °¡Á·¼º Á¶Á÷±¸¼º ÇǺΠ°üÀý¿°
  • familial hyperlipoproteinemia
    °¡Á·¼º °úÁöÁú´Ü¹éÇ÷Áõ
  • familial hypophosphatemic rickets

    familial leiomyomatosis cutis et uteri (°¡Á·¼º ÇǺΠÀڱà ±ÙÁ¾Áõ

CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
apoprotein CII apolipoprotein CII
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)
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)
apolipoprotein <biochemistry, protein> The protein component of serum lipoproteins. Small proteins containing multiple copies of the kringle domain.
(18 Nov 1997)
apolipoprotein A-I <biochemistry> The major protein component of high density lipoproteins. It is instrumental in promoting efflux of cholesterol from extrahepatic tissue to the liver where it is metabolised and excreted from the body. The compound is the activator of lecithin-cholesterol acyltransferase which forms cholesteryl esters in hdl. The gene for this apolipoprotein is found on the long arm of chromosome 11.
(12 Dec 1998)
apolipoprotein A-II <biochemistry> A component of high density lipoproteins. It is instrumental in promoting efflux of cholesterol from extrahepatic tissue to the liver where it is metabolised and excreted from the body. This protein modulates the activation of lecithin-cholesterol acyltransferase in the presence of apolipoprotein A-I.
(12 Dec 1998)
apolipoprotein A-IV <biochemistry> An apolipoprotein secreted with chylomicrons.
(05 Mar 2000)
apolipoprotein B <biochemistry> Apolipoproteins found in LDL, VLDL, and IDL. Elevated in the plasma of individuals with familial hyperlipoproteinaemia.
(05 Mar 2000)
apolipoprotein B-100 <biochemistry> An apolipoprotein found in LDL, VLDL, and IDL. The ligand for the LDL receptor; absent in certain types of abetalipoproteinaemia.
Apolipoproteins are proteins on the surface of the lipoprotein complex that bind to specific enzymes or transport proteins across the cell membrane.
The normal range is 40 to 125 mg/dl.
Elevated levels may be seen in familial combined hyperlipidaemia and acquired hyperlipidaemia. Elevation may also be seen in cases of acute angina and myocardial infarction.
(27 Sep 1997)
apolipoprotein B-48 <biochemistry> An apolipoprotein found in chylomicrons and chylomicron remnants. Retained in intestine of individuals with chylomicron retention disease.
(05 Mar 2000)
apolipoprotein C-I <biochemistry> An apolipoprotein found in VLDL, HDL, and chylomicrons.
(05 Mar 2000)
apolipoprotein C-II <biochemistry> An apolipoprotein found in VLDL, HDL, and chylomicrons; an activator of lipoprotein lipase; a deficiency will result in accumulation of chylomicrons and triacylglycerols.
Apolipoproteins are proteins on the surface of the lipoprotein complex that bind to specific enzymes or transport proteins across the cell membrane.
Elevated levels may be seen in acute angina and acute myocardial infarction. Low levels are seen in apolipoprotein C-II deficiency. Normal levels are seen in type I hyperlipoproteinaemia.
(27 Sep 1997)
apolipoprotein C-III <biochemistry> An apolipoprotein found in VLDL, HDL, and chylomicrons.
(05 Mar 2000)
apolipoprotein D <biochemistry> An apolipoprotein found in HDL whose function is unclear.
(05 Mar 2000)
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