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class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u75c7\u72b6\u3092\u3084\u308f\u3089\u3052\u3001\u751f\u6d3b\u3092\u652f\u3048\u308b\u6cbb\u7642\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<strong>\u578b\u306b\u3088\u3063\u3066\u7d4c\u904e\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u304a\u5b50\u3055\u307e\u306e\u72b6\u614b\u306b\u5408\u308f\u305b\u3066\u533b\u7642\u30c1\u30fc\u30e0\u3068\u65b9\u91dd\u3092\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75db\u307f\u3068\u708e\u75c7\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u75db\u307f\u6b62\u3081\u3084\u708e\u75c7\u3092\u6291\u3048\u308b\u85ac\u3092\u4f7f\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u95a2\u7bc0\u304c\u56fa\u307e\u308b\u306e\u3092\u3067\u304d\u308b\u3060\u3051\u9632\u304e\u3001\u52d5\u304b\u305b\u308b\u7bc4\u56f2\u3092\u4fdd\u3061\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3057\u3053\u308a\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u751f\u6d3b\u306e\u59a8\u3052\u306b\u306a\u308b\u3057\u3053\u308a\u306f\u3001\u624b\u8853\u3067\u53d6\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u547c\u5438\u30fb\u6804\u990a\u306e\u7ba1\u7406<\/strong>\uff1a\u306e\u3069\u306e\u3057\u3053\u308a\u3067\u547c\u5438\u3084\u98f2\u307f\u8fbc\u307f\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u6c17\u9053\u306e\u78ba\u4fdd\u3084\u6804\u990a\u306e\u88dc\u52a9\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d<\/strong>\uff1a\u795e\u7d4c\u306e\u75c7\u72b6\u304c\u306a\u3044\u578b\u3067\u306f\u3001<strong>\u79fb\u690d\u306b\u3088\u3063\u3066\u95a2\u7bc0\u3084\u3057\u3053\u308a\u306e\u75c7\u72b6\u304c\u6539\u5584\u3057\u305f\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059<\/strong>\u3002\u305f\u3060\u3057\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u79fb\u690d\u305d\u306e\u3082\u306e\u306e\u8ca0\u62c5\u3084\u5371\u967a\u3082\u3042\u308b\u305f\u3081\u3001\u5c02\u9580\u65bd\u8a2d\u3067\u614e\u91cd\u306b\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u65b0\u3057\u3044\u6cbb\u7642<\/strong>\uff1a\u9175\u7d20\u3092\u88dc\u3046\u6cbb\u7642\uff08\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff09\u306a\u3069\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u307e\u3060\u7814\u7a76\u6bb5\u968e\u3067\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/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>ASAH1<\/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>ASAH1<\/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\">\u30d5\u30a1\u30fc\u30d0\u30fc\u8102\u80aa\u8089\u82bd\u816b\u75c7\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>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\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>ASAH1<\/strong> \u306f<strong>\u30ea\u30bd\u30bd\u30fc\u30e0\u9178\u6027\u30bb\u30e9\u30df\u30c0\u30fc\u30bc<\/strong>\u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002\u524d\u99c6\u4f53\u306f\u81ea\u5df1\u5207\u65ad\u306b\u3088\u3063\u3066\u03b1\u30fb\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u304b\u3089\u306a\u308b\u6d3b\u6027\u578b\u3068\u306a\u308a\u3001\u30bb\u30e9\u30df\u30c9\u3092\u30b9\u30d5\u30a3\u30f3\u30b4\u30b7\u30f3\u3068\u8102\u80aa\u9178\u306b\u52a0\u6c34\u5206\u89e3\u3059\u308b\u3002\u30b9\u30d5\u30a3\u30f3\u30b4\u8102\u8cea\u5206\u89e3\u7d4c\u8def\u306e\u8981\u3068\u306a\u308b\u9175\u7d20\u3067\u3042\u308a\u3001\u6b20\u640d\u306b\u3088\u308a<strong>\u30bb\u30e9\u30df\u30c9\u304c\u7d44\u7e54\u306b\u84c4\u7a4d\u3057\u3001\u30de\u30af\u30ed\u30d5\u30a1\u30fc\u30b8\u7531\u6765\u306e\u6ce1\u6cab\u7d30\u80de\u3092\u4f34\u3046\u8089\u82bd\u816b\u6027\u708e\u75c7<\/strong>\u3092\u304d\u305f\u3059\u3002\u96fb\u5b50\u9855\u5fae\u93e1\u3067\u306f\u6e7e\u66f2\u3057\u305f\u7ba1\u72b6\u306e\u5c01\u5165\u4f53\uff08\u30d5\u30a1\u30fc\u30d0\u30fc\u5c0f\u4f53\uff09\u304c\u7279\u5fb4\u7684\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u81e8\u5e8a\u50cf\u306f\u9023\u7d9a\u7684\u306a\u5e83\u304c\u308a\u3092\u793a\u3057\u3001\u5f93\u6765\u306f<strong>\u2460\u53e4\u5178\u578b\uff08\u4e73\u5150\u671f\u767a\u75c7\u306e\u4e09\u5fb4\uff09\u3001\u2461\u4e2d\u9593\u578b\u30fb\u2462\u8efd\u75c7\u578b\uff08\u95a2\u7bc0\u75c7\u72b6\u304c\u4e3b\u4f53\u3067\u9577\u671f\u751f\u5b58\uff09\u3001\u2463\u65b0\u751f\u5150\u30fb\u5185\u81d3\u578b\uff08\u809d\u813e\u816b\u30fb\u80ce\u5150\u6c34\u816b\u3092\u4f34\u3044\u4e73\u5150\u65e9\u671f\u306b\u6b7b\u4ea1\uff09\u3001\u2464\u795e\u7d4c\u9032\u884c\u578b<\/strong>\u306a\u3069\u306b\u5206\u985e\u3055\u308c\u3066\u304d\u305f\uff08\u65e7\u5206\u985e\u306b\u306f\u30d7\u30ed\u30b5\u30dd\u30b7\u30f3\u6b20\u640d\u75c7\u3084\u30b5\u30f3\u30c9\u30db\u30d5\u75c5\u3068\u306e\u5408\u4f75\u4f8b\u3082\u542b\u307e\u308c\u3066\u3044\u305f\uff09\u3002<strong>\u540c\u4e00\u907a\u4f1d\u5b50\u306e\u5225\u306e\u75be\u60a3\u3068\u3057\u3066SMA-PME\uff08\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u3068\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u3066\u3093\u304b\u3093\uff09\u304c\u3042\u308a\u3001\u95a2\u7bc0\u75c7\u72b6\u30fb\u76ae\u4e0b\u7d50\u7bc0\u3092\u6b20\u304f\u70b9\u3067\u672c\u75c7\u3068\u5bfe\u7167\u7684\u3067\u3042\u308b<\/strong>\u3002\u6b8b\u5b58\u9175\u7d20\u6d3b\u6027\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001<strong>\u82e5\u5e74\u6027\u7279\u767a\u6027\u95a2\u7bc0\u708e<\/strong>\u3001\u785d\u5b50\u7dda\u7dad\u816b\u75c7\uff08<em>ANTXR2<\/em>\uff09\u3001\u591a\u4e2d\u5fc3\u6027\u9aa8\u6eb6\u89e3\u75c7\uff08<em>MMP2<\/em> \u306a\u3069\uff09\u3001\u30e0\u30b3\u591a\u7cd6\u75c7\u3001\u307b\u304b\u306e\u30ea\u30bd\u30bd\u30fc\u30e0\u75c5\u304c\u6319\u304c\u308b\u3002<strong>\u95a2\u7bc0\u708e\u3068\u3057\u3066\u9577\u671f\u9593\u6cbb\u7642\u3055\u308c\u3066\u3044\u308b\u4f8b\u304c\u3042\u308a\u3001\u76ae\u4e0b\u7d50\u7bc0\u3068\u55c4\u58f0\u3092\u4f34\u3046\u4e73\u5e7c\u5150\u306e\u95a2\u7bc0\u708e\u3067\u306f\u672c\u75c7\u3092\u5ff5\u982d\u306b\u7f6e\u304d\u3001\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u3068\u907a\u4f1d\u5b50\u89e3\u6790\u3092\u884c\u3046\u3053\u3068\u304c\u91cd\u8981\u3067\u3042\u308b<\/strong>\u3002\u795e\u7d4c\u75c7\u72b6\u306e\u306a\u3044\u4f8b\u3067\u306f\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u306b\u3088\u308b\u708e\u75c7\u75c7\u72b6\u306e\u6539\u5584\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u7d44\u63db\u3048\u9178\u6027\u30bb\u30e9\u30df\u30c0\u30fc\u30bc\u306b\u3088\u308b\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u306f\u958b\u767a\u6bb5\u968e\u306b\u3042\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>\u30ad\u30e3\u30ea\u30a2\u306e\u3054\u4e21\u89aa\u3054\u81ea\u8eab\u306b\u306f\u3001\u901a\u5e38\u75c7\u72b6\u306f\u3042\u308a\u307e\u305b\u3093\u3002<strong>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3092\u78ba\u5b9a\u3057\u3066\u304a\u304f\u3053\u3068\u3067\u3001\u6b21\u306e\u598a\u5a20\u3067\u306e\u691c\u67fb\u306e\u9078\u629e\u80a2\u304c\u5e83\u304c\u308a\u307e\u3059\u3002<\/strong><\/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>\u591a\u304f\u306e\u578b\u3067\u306f\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u76ee\u7acb\u3064\u6240\u898b\u306f\u306a\u304f\u3001\u751f\u307e\u308c\u3066\u6570\u304b\u6708\u305f\u3063\u3066\u304b\u3089\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/strong>\u91cd\u3044\u65b0\u751f\u5150\u578b\u3067\u306f\u3001\u80ce\u5150\u6c34\u816b\u3068\u3057\u3066\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u78ba\u5b9a\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\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. \u540c\u3058\u907a\u4f1d\u5b50\u3067\u5225\u306e\u75c5\u6c17\u3082\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>ASAH1 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001\u95a2\u7bc0\u3084\u3057\u3053\u308a\u306e\u75c7\u72b6\u306f\u307b\u3068\u3093\u3069\u306a\u304f\u3001\u7b4b\u529b\u306e\u4f4e\u4e0b\u3068\u3066\u3093\u304b\u3093\u304c\u304a\u3082\u306a\u75c7\u72b6\u3068\u306a\u308b\u75c5\u6c17\uff08SMA-PME\uff09\u3092\u8d77\u3053\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/strong>\u3069\u3061\u3089\u306b\u306a\u308b\u304b\u306f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306e\u7a2e\u985e\u306a\u3069\u306b\u3088\u308b\u305f\u3081\u3001\u5c02\u9580\u306e\u533b\u5e2b\u304c\u75c7\u72b6\u3068\u691c\u67fb\u7d50\u679c\u3092\u3042\u308f\u305b\u3066\u5224\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u306e\u3088\u3046\u306a\u7d4c\u904e\u3092\u305f\u3069\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u578b\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u80ba\u3084\u809d\u81d3\u304c\u304a\u304b\u3055\u308c\u308b\u91cd\u3044\u578b\u3067\u306f\u3001\u4e73\u5e7c\u5150\u671f\u306b\u4ea1\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u4e00\u65b9\u3001<strong>\u95a2\u7bc0\u306e\u75c7\u72b6\u304c\u4e2d\u5fc3\u306e\u8efd\u3044\u578b\u3067\u306f\u3001\u6210\u4eba\u307e\u3067\u904e\u3054\u3055\u308c\u308b\u65b9\u3082\u3044\u307e\u3059<\/strong>\u3002\u304a\u5b50\u3055\u307e\u306e\u72b6\u614b\u306b\u5408\u308f\u305b\u3066\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3068\u3088\u304f\u8a71\u3057\u5408\u3063\u3066\u304f\u3060\u3055\u3044\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>Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. <em>Orphanet J Rare Dis<\/em>. 2018;13(1):121.<\/li>\n\n\n\n<li>Koch J, G\u00e4rtner S, Li CM, et al. Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification of the first molecular lesion causing Farber disease. <em>J Biol Chem<\/em>. 1996;271(51):33110-33115.<\/li>\n\n\n\n<li>Ehlert K, Frosch M, Fehse N, et al. Farber disease: clinical presentation, pathogenesis and a new approach to treatment. <em>Pediatr Rheumatol Online J<\/em>. 2007;5:15.<\/li>\n\n\n\n<li>Zhou J, Tawk M, Tiziano FD, et al. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. <em>Am J Hum Genet<\/em>. 2012;91(1):5-14.<\/li>\n\n\n\n<li>OMIM #228000 Farber lipogranulomatosis. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>OMIM #159950 Spinal muscular atrophy with progressive myoclonic epilepsy. 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-147972","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\/147972","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\/147972\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147972"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}