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class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u30b7\u30e3\u30ca\u30ea\u30f3\u30fb\u30c9\u30eb\u30d5\u30de\u30f3\u75c7\u5019\u7fa4\u3067\u306f <strong>ABHD5<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>\u9b5a\u9c57\u766c\u3092\u8d77\u3053\u3059\u75c5\u6c17\u306f\u307b\u304b\u306b\u3082\u591a\u3044\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u809d\u81d3\u306a\u3069\u306e\u898b\u5b88\u308a\u306e\u65b9\u91dd\u3084\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u76ae\u819a\u306e\u75c7\u72b6\u3092\u3084\u308f\u3089\u3052\u308b\u6cbb\u7642\u3068\u3001<strong>\u809d\u81d3\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u5168\u8eab\u306e\u72b6\u614b\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u3001\u65e9\u3081\u306b\u5bfe\u5fdc\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u4e2d\u5fc3<\/strong>\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b9\u30ad\u30f3\u30b1\u30a2<\/strong>\uff1a\u4fdd\u6e7f\u5264\u3084\u3001\u539a\u304f\u306a\u3063\u305f\u89d2\u8cea\u3092\u3084\u308f\u3089\u304b\u304f\u3059\u308b\u5857\u308a\u85ac\u3092\u6bce\u65e5\u7d9a\u3051\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ec\u30c1\u30ce\u30a4\u30c9\u306e\u5185\u670d<\/strong>\uff1a\u76ae\u819a\u306e\u75c7\u72b6\u304c\u91cd\u3044\u5834\u5408\u306b\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u526f\u4f5c\u7528\u304c\u3042\u308b\u305f\u3081\u3001\u533b\u5e2b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u614e\u91cd\u306b\u4f7f\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u98df\u4e8b\u306e\u5de5\u592b<\/strong>\uff1a\u8102\u80aa\u3092\u63a7\u3048\u3001\u4f53\u5185\u3067\u4f7f\u308f\u308c\u3084\u3059\u3044\u4e2d\u9396\u8102\u80aa\u9178\u3092\u53d6\u308a\u5165\u308c\u308b\u98df\u4e8b\u3067\u3001\u809d\u81d3\u306e\u5024\u304c\u6539\u5584\u3057\u305f\u3068\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u7ba1\u7406\u6804\u990a\u58eb\u3068\u76f8\u8ac7\u3057\u3066\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u809d\u81d3\u306e\u5b9a\u671f\u7684\u306a\u691c\u67fb<\/strong>\uff1a\u8102\u80aa\u809d\u3084\u809d\u7dda\u7dad\u5316\u306e\u9032\u307f\u5177\u5408\u3092\u3001\u8840\u6db2\u691c\u67fb\u3084\u753b\u50cf\u691c\u67fb\u3067\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u76ee\u30fb\u8033\u30fb\u7b4b\u8089\u30fb\u767a\u9054\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d<\/strong>\uff1a\u767d\u5185\u969c\u3084\u96e3\u8074\u306f\u3001\u65e9\u304f\u898b\u3064\u3051\u3066\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u5fc3\u7406\u7684\u652f\u63f4<\/strong><\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>ABHD5<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p class=\"wp-block-paragraph\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>ABHD5<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u30b7\u30e3\u30ca\u30ea\u30f3\u30fb\u30c9\u30eb\u30d5\u30de\u30f3\u75c7\u5019\u7fa4\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u3067\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>ABHD5<\/strong>\uff08CGI-58\uff09\u306f\u03b1\/\u03b2\u30d2\u30c9\u30ed\u30e9\u30fc\u30bc\u30d5\u30a9\u30fc\u30eb\u30c9\u3092\u6301\u3064\u304c\u3001\u305d\u308c\u81ea\u4f53\u306e\u52a0\u6c34\u5206\u89e3\u6d3b\u6027\u306f\u307b\u3068\u3093\u3069\u306a\u304f\u3001<strong>\u8102\u80aa\u6ef4\u4e0a\u3067\u30da\u30ea\u30ea\u30d4\u30f3\u3068\u7d50\u5408\u3057\u3066\u5f85\u6a5f\u3057\u3001\u523a\u6fc0\u306b\u5fdc\u3058\u3066\u904a\u96e2\u3057\u3066ATGL\uff08<em>PNPLA2<\/em>\uff09\u3092\u6d3b\u6027\u5316\u3059\u308b\u88dc\u52a9\u56e0\u5b50<\/strong>\u3068\u3057\u3066\u306f\u305f\u3089\u304f\u3002\u6b20\u640d\u3059\u308b\u3068\u30c8\u30ea\u30b0\u30ea\u30bb\u30ea\u30c9\u5206\u89e3\u306e\u6700\u521d\u306e\u6bb5\u968e\u304c\u969c\u5bb3\u3055\u308c\u3001<strong>\u809d\u7d30\u80de\u30fb\u9aa8\u683c\u7b4b\u30fb\u8868\u76ae\u30fb\u767d\u8840\u7403\u306a\u3069\u591a\u81d3\u5668\u306b\u4e2d\u6027\u8102\u80aa\u304c\u84c4\u7a4d<\/strong>\u3059\u308b\u3002\u8868\u76ae\u3067\u306f\u3001ABHD5 \u306f<strong>PNPLA1 \u3068\u5354\u8abf\u3057\u3066\u89d2\u5c64\u30d0\u30ea\u30a2\u8102\u8cea\u3067\u3042\u308b\u03c9-O-\u30a2\u30b7\u30eb\u30bb\u30e9\u30df\u30c9\u306e\u751f\u6210\u306b\u95a2\u4e0e<\/strong>\u3059\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u7d4c\u8def\u306e\u969c\u5bb3\u304c\u9b5a\u9c57\u766c\u306e\u4e3b\u56e0\u3068\u8003\u3048\u3089\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u4e2d\u6027\u8102\u80aa\u84c4\u7a4d\u75c7\u306f\u3001\u9b5a\u9c57\u766c\u3092\u4f34\u3046\u578b\uff08NLSDI\u3001<em>ABHD5<\/em>\uff09\u3068\u30df\u30aa\u30d1\u30c1\u30fc\u3092\u4f34\u3046\u578b\uff08NLSDM\u3001<em>PNPLA2<\/em>\uff09\u306b\u5206\u304b\u308c\u308b<\/strong>\u3002\u672b\u68a2\u8840\u597d\u4e2d\u7403\u306e\u8102\u80aa\u7a7a\u80de\uff08\u30b8\u30e7\u30fc\u30c0\u30f3\u30ba\u7570\u5e38\uff09\u306f\u4e21\u578b\u306b\u5171\u901a\u3059\u308b\u304c\u3001<strong>NLSDI \u306f\u5148\u5929\u6027\u9b5a\u9c57\u766c\u3068\u809d\u969c\u5bb3\u304c\u524d\u666f\u306b\u7acb\u3061\u7b4b\u75c7\u72b6\u306f\u8efd\u5ea6\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u306b\u5bfe\u3057\u3001NLSDM \u306f\u9b5a\u9c57\u766c\u3092\u6b20\u304d\u3001\u9032\u884c\u6027\u306e\u9aa8\u683c\u7b4b\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u5fc3\u7b4b\u75c7\u304c\u4e88\u5f8c\u3092\u898f\u5b9a\u3059\u308b<\/strong>\u3002\u3053\u306e\u9055\u3044\u306f\u3001ABHD5 \u304c\u8868\u76ae\u8102\u8cea\u4ee3\u8b1d\u306b\u304a\u3044\u3066ATGL\u975e\u4f9d\u5b58\u7684\u306a\u5f79\u5272\u3092\u62c5\u3046\u3053\u3068\u3067\u8aac\u660e\u3055\u308c\u308b\u3002NLSDI \u3067\u306f\u809d\u7dda\u7dad\u5316\u304b\u3089\u809d\u786c\u5909\u3078\u9032\u884c\u3059\u308b\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u9577\u671f\u306e\u809d\u8a55\u4fa1\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u4ed6\u306e\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u5148\u5929\u6027\u9b5a\u9c57\u766c\uff08<em>TGM1<\/em>\u3001<em>ALOX12B<\/em>\u3001<em>ALOXE3<\/em>\u3001<em>NIPAL4<\/em>\u3001<em>CYP4F22<\/em>\u3001<em>PNPLA1<\/em> \u306a\u3069\uff09\u3001\u30b7\u30a7\u30fc\u30b0\u30ec\u30f3\u30fb\u30e9\u30eb\u30bd\u30f3\u75c7\u5019\u7fa4\uff08<em>ALDH3A2<\/em>\u3001\u9b5a\u9c57\u766c\u30fb\u75d9\u6027\u5bfe\u9ebb\u75fa\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff09\u3001\u30cd\u30b6\u30fc\u30c8\u30f3\u75c7\u5019\u7fa4\uff08<em>SPINK5<\/em>\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u9b5a\u9c57\u766c\u306e\u60a3\u5150\u3067\u672b\u68a2\u8840\u5857\u62b9\u6a19\u672c\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u7c21\u4fbf\u304b\u3064\u6709\u7528\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u306a\u308a\u3001\u809d\u816b\u5927\u30fb\u809d\u9175\u7d20\u4e0a\u6607\u3092\u4f34\u3046\u5834\u5408\u306f\u672c\u75c7\u3092\u5f37\u304f\u7591\u3046\u3002<\/strong>\u6b21\u5b50\u518d\u767a\u7387\u306f25%\u3067\u3042\u308a\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u7537\u306e\u5b50\u30fb\u5973\u306e\u5b50\u3067\u78ba\u7387\u306b\u5dee\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u306a\u3044\u5834\u5408\u3067\u3082\u30012\u5206\u306e1\u306e\u78ba\u7387\u3067\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3084\u3054\u5bb6\u65cf\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u7b4b\u8089\u306e\u75c5\u6c17\u306b\u306a\u308b\u4f3c\u305f\u540d\u524d\u306e\u75c5\u6c17\u304c\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>\u300c\u30df\u30aa\u30d1\u30c1\u30fc\u3092\u4f34\u3046\u4e2d\u6027\u8102\u80aa\u84c4\u7a4d\u75c7\u300d\u306f PNPLA2 \u3068\u3044\u3046\u5225\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001\u76ae\u819a\u306e\u75c7\u72b6\u306f\u306a\u304f\u3001\u7b4b\u529b\u4f4e\u4e0b\u3084\u5fc3\u81d3\u306e\u75c5\u6c17\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/strong>\u30b7\u30e3\u30ca\u30ea\u30f3\u30fb\u30c9\u30eb\u30d5\u30de\u30f3\u75c7\u5019\u7fa4\u306f ABHD5 \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u9b5a\u9c57\u766c\u3068\u809d\u81d3\u306e\u75c7\u72b6\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u533a\u5225\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u76ae\u819a\u306e\u75c7\u72b6\u306f\u3088\u304f\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u9b5a\u9c57\u766c\u306f\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u7d9a\u304f\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6bce\u65e5\u306e\u4fdd\u6e7f\u306a\u3069\u306e\u30b9\u30ad\u30f3\u30b1\u30a2\u3067\u3001\u3064\u3063\u3071\u308a\u611f\u3084\u304b\u3086\u307f\u3092\u3084\u308f\u3089\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong>\u75c7\u72b6\u304c\u91cd\u3044\u5834\u5408\u306f\u98f2\u307f\u85ac\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u76ae\u819a\u3060\u3051\u3067\u306a\u304f\u809d\u81d3\u306e\u72b6\u614b\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Lef\u00e8vre C, Jobard F, Caux F, et al. Mutations in CGI-58, the gene encoding a new protein of the esterase\/lipase\/thioesterase subfamily, in Chanarin-Dorfman syndrome. <em>Am J Hum Genet<\/em>. 2001;69(5):1002-1012.<\/li>\n\n\n\n<li>Lass A, Zimmermann R, Haemmerle G, et al. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. <em>Cell Metab<\/em>. 2006;3(5):309-319.<\/li>\n\n\n\n<li>Fischer J, Lef\u00e8vre C, Morava E, et al. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. <em>Nat Genet<\/em>. 2007;39(1):28-30.<\/li>\n\n\n\n<li>Chanarin I, Patel A, Slavin G, et al. Neutral-lipid storage disease: a new disorder of lipid metabolism. <em>Br Med J<\/em>. 1975;1(5957):553-555.<\/li>\n\n\n\n<li>OMIM #275630 Chanarin-Dorfman syndrome; CDS. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147790","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147790","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147790\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147790"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}