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class=\"wp-block-paragraph\"><strong>\u4e2d\u5fc3\u3068\u306a\u308b\u306e\u306f\u3001\u30d3\u30bf\u30df\u30f3B2\uff08\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\uff09\u3092\u591a\u3081\u306b\u98f2\u307f\u7d9a\u3051\u308b\u6cbb\u7642\u3067\u3059\u3002<\/strong>\u591a\u304f\u306e\u65b9\u3067\u7b4b\u529b\u30fb\u547c\u5438\u30fb\u98f2\u307f\u8fbc\u307f\u306a\u3069\u306e\u6539\u5584\u3084\u9032\u884c\u306e\u505c\u6b62\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001<strong>\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u3059\u3067\u306b\u5931\u308f\u308c\u305f\u805e\u3053\u3048\u3084\u795e\u7d4c\u306e\u306f\u305f\u3089\u304d\u304c\u5341\u5206\u306b\u623b\u3089\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/strong>\u6cbb\u7642\u306f\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u7d9a\u3051\u308b\u5fc5\u8981\u304c\u3042\u308a\u3001\u91cf\u306f\u4e3b\u6cbb\u533b\u304c\u6c7a\u3081\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d3\u30bf\u30df\u30f3B2\u306e\u5927\u91cf\u5185\u670d<\/strong>\uff1a\u3067\u304d\u308b\u3060\u3051\u65e9\u304f\u59cb\u3081\u3001\u81ea\u5df1\u5224\u65ad\u3067\u4e2d\u65ad\u3057\u306a\u3044\u3053\u3068\u304c\u5927\u5207\u3067\u3059<\/li>\n\n\n\n<li><strong>\u547c\u5438\u306e\u88dc\u52a9<\/strong>\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u3001\u591c\u9593\u306e\u4eba\u5de5\u547c\u5438\u5668\uff08\u30de\u30b9\u30af\u578b\uff09\u3084\u6c17\u7ba1\u5207\u958b\u306b\u3088\u308b\u547c\u5438\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6804\u990a\u3068\u98f2\u307f\u8fbc\u307f\u306e\u652f\u63f4<\/strong>\uff1a\u98df\u4e8b\u306e\u5f62\u306e\u5de5\u592b\u3001\u8a00\u8a9e\u8074\u899a\u58eb\u306b\u3088\u308b\u8a13\u7df4\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u80c3\u308d\u3046\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u805e\u3053\u3048\u306e\u652f\u63f4<\/strong>\uff1a\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u7b4b\u529b\u3084\u751f\u6d3b\u52d5\u4f5c\u3092\u4fdd\u3064\u305f\u3081\u306e\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf<\/strong>\uff1a\u8074\u529b\u30fb\u8996\u529b\u30fb\u547c\u5438\u6a5f\u80fd\u30fb\u98f2\u307f\u8fbc\u307f\u306e\u72b6\u614b\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059<\/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>SLC52A3<\/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\u306e2\u3064\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>SLC52A3<\/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\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\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>SLC52A3<\/strong>\uff08\u65e7\u79f0 C20orf54\uff09\u306f<strong>\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc3\uff08RFVT3\uff09<\/strong>\u3092\u30b3\u30fc\u30c9\u3057\u3001\u4e3b\u306b\u5c0f\u8178\u4e0a\u76ae\u306e\u5237\u5b50\u7e01\u819c\u306b\u767a\u73fe\u3057\u3066\u8178\u7ba1\u304b\u3089\u306e\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\u5438\u53ce\u3092\u62c5\u3046\u3002\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\u306f<strong>FMN\u30fbFAD\u306e\u524d\u99c6\u4f53<\/strong>\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u4e4f\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u96fb\u5b50\u4f1d\u9054\u7cfb\u3084\u8102\u80aa\u9178\u03b2\u9178\u5316\u306a\u3069\u30d5\u30e9\u30d3\u30f3\u4f9d\u5b58\u6027\u9175\u7d20\u306e\u6a5f\u80fd\u4f4e\u4e0b\u3092\u3082\u305f\u3089\u3059\u3002<strong>\u8133\u5e79\u904b\u52d5\u6838\u30fb\u524d\u89d2\u7d30\u80de\u30fb\u30e9\u30bb\u30f3\u795e\u7d4c\u7bc0\u304c\u9078\u629e\u7684\u306b\u969c\u5bb3\u3055\u308c\u308b\u6a5f\u5e8f\u306f\u5341\u5206\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u306a\u3044\u3002<\/strong><\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u30d6\u30e9\u30a6\u30f3\u30fb\u30f4\u30a3\u30a2\u30ec\u30c3\u30c8\u30fb\u30f4\u30a1\u30f3\u30fb\u30ec\u30fc\u30eb\u75c7\u5019\u7fa4\u306f\u907a\u4f1d\u5b50\u5ea7\u7570\u8cea\u6027\u3092\u793a\u3057\u30011\u578b\u306f SLC52A3\u30012\u578b\u306f SLC52A2\uff08RFVT2\uff09\u304c\u539f\u56e0\u3067\u3042\u308b<\/strong>\u3002\u4e21\u8005\u306f\u73fe\u5728\u300c\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\u6b20\u640d\u75c7\u300d\u3068\u3057\u3066\u307e\u3068\u3081\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002<strong>1\u578b\u306f\u611f\u97f3\u96e3\u8074\u3068\u8133\u795e\u7d4c\uff08\u7b2cVII\u30fbIX\u301cXII\uff09\u969c\u5bb3\u306b\u3088\u308b\u7403\u9ebb\u75fa\u304c\u4e2d\u6838\u3067\u30012\u578b\u306f\u8996\u795e\u7d4c\u840e\u7e2e\u30fb\u611f\u899a\u6027\u904b\u52d5\u5931\u8abf\u30fb\u4e0a\u80a2\u512a\u4f4d\u306e\u7b4b\u529b\u4f4e\u4e0b\u304c\u3088\u308a\u76ee\u7acb\u3064\u50be\u5411\u304c\u3042\u308b<\/strong>\u3002\u307e\u305f\u3001<strong>\u96e3\u8074\u3092\u6b20\u304d\u9032\u884c\u6027\u7403\u9ebb\u75fa\u3092\u4e3b\u3068\u3059\u308b\u30d5\u30a1\u30c4\u30a3\u30aa\u30fb\u30ed\u30f3\u30c7\u75c5\u3082 SLC52A3 \u306e\u30a2\u30ec\u30eb\u75be\u60a3<\/strong>\u3067\u3042\u308a\u3001\u4e21\u8005\u306f\u540c\u4e00\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u4e0a\u306e\u8868\u73fe\u578b\u3068\u7406\u89e3\u3055\u308c\u3066\u3044\u308b\u30021\u578b\u3067\u306f\u5973\u6027\u4f8b\u306e\u5831\u544a\u304c\u591a\u3044\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u4e00\u90e8\u306e\u75c7\u4f8b\u3067<strong>\u8840\u6f3f\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u5206\u6790\u304c\u8efd\u75c7\u578b\u30de\u30eb\u30c1\u30d7\u30eb\u30a2\u30b7\u30eb-CoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7\u306b\u985e\u4f3c\u3057\u305f\u30d1\u30bf\u30fc\u30f3<\/strong>\u3092\u793a\u3057\u3001\u3053\u308c\u304c<strong>\u9ad8\u7528\u91cf\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\u88dc\u5145\u7642\u6cd5\u306e\u5c0e\u5165\u306e\u5951\u6a5f<\/strong>\u3068\u306a\u3063\u305f\u3002\u88dc\u5145\u7642\u6cd5\u306b\u3088\u308a\u904b\u52d5\u30fb\u547c\u5438\u6a5f\u80fd\u306e\u6539\u5584\u3084\u9032\u884c\u505c\u6b62\u3092\u8a8d\u3081\u305f\u4f8b\u304c\u591a\u6570\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u53cd\u5fdc\u306b\u306f\u5dee\u304c\u3042\u308a\u3001\u96e3\u8074\u306e\u6539\u5584\u306f\u9650\u5b9a\u7684\u306a\u3053\u3068\u304c\u591a\u3044\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u82e5\u5e74\u6027\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u3001\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u3001\u91cd\u75c7\u7b4b\u7121\u529b\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u3001\u30de\u30eb\u30c1\u30d7\u30eb\u30a2\u30b7\u30eb-CoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7\u3001\u30ae\u30e9\u30f3\u30fb\u30d0\u30ec\u30fc\u75c7\u5019\u7fa4\u306a\u3069\u304c\u6319\u304c\u308b\u3002<strong>\u6cbb\u7642\u53ef\u80fd\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u539f\u56e0\u4e0d\u660e\u306e\u5c0f\u5150\u671f\u767a\u75c7\u306e\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u969c\u5bb3\u3084\u96e3\u8074\u3092\u3068\u3082\u306a\u3046\u7403\u9ebb\u75fa\u3067\u306f\u3001\u672c\u75c7\u3092\u65e9\u671f\u306b\u5ff5\u982d\u306b\u7f6e\u304f\u3053\u3068\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<\/strong><\/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\u306e\u3069\u3061\u3089\u306b\u3082\u8d77\u3053\u308a\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u306e\u65b9\u3054\u81ea\u8eab\u306b\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u306f\u901a\u5e38\u3042\u308a\u307e\u305b\u3093\u3002<strong>\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3057\u3066\u304a\u304f\u3053\u3068\u3067\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u898b\u901a\u3057\u3092\u304a\u4f1d\u3048\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u3084\u751f\u307e\u308c\u305f\u3068\u304d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u751f\u307e\u308c\u305f\u3068\u304d\u306b\u306f\u75c7\u72b6\u304c\u306a\u3044\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u65b0\u751f\u5150\u306e\u8a3a\u5bdf\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u306f\u307e\u305a\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u4e21\u89aa\u304c\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\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. \u30d3\u30bf\u30df\u30f3B2\u3092\u98f2\u3081\u3070\u6cbb\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u30d3\u30bf\u30df\u30f3B2\u3092\u591a\u3081\u306b\u98f2\u3080\u6cbb\u7642\u3067\u3001\u75c7\u72b6\u306e\u6539\u5584\u3084\u9032\u884c\u306e\u505c\u6b62\u304c\u307f\u3089\u308c\u305f\u65b9\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u3059\u3067\u306b\u9032\u3093\u3060\u96e3\u8074\u306a\u3069\u306f\u623b\u308a\u306b\u304f\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<strong>\u65e9\u304f\u59cb\u3081\u308b\u307b\u3069\u52b9\u679c\u304c\u671f\u5f85\u3067\u304d\u308b\u305f\u3081\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u304c\u5927\u5207\u3067\u3059\u3002<\/strong>\u5e02\u8ca9\u306e\u30b5\u30d7\u30ea\u30e1\u30f3\u30c8\u3067\u81ea\u5df1\u5224\u65ad\u305b\u305a\u3001\u91cf\u3084\u7d9a\u3051\u65b9\u306f\u5fc5\u305a\u4e3b\u6cbb\u533b\u3068\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. 1\u578b\u30682\u578b\u306f\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u30021\u578b\u306f SLC52A3\u30012\u578b\u306f SLC52A2 \u3067\u3059\u3002<\/strong>1\u578b\u306f\u96e3\u8074\u3068\u3001\u8a71\u3059\u30fb\u98f2\u307f\u8fbc\u3080\u529b\u306e\u4f4e\u4e0b\uff08\u7403\u9ebb\u75fa\uff09\u304c\u4e2d\u5fc3\u3067\u30012\u578b\u306f\u8996\u529b\u306e\u4f4e\u4e0b\u3084\u3075\u3089\u3064\u304d\u3001\u8155\u306e\u7b4b\u529b\u4f4e\u4e0b\u304c\u76ee\u7acb\u3061\u3084\u3059\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u3069\u3061\u3089\u3082\u30d3\u30bf\u30df\u30f3B2\u306e\u904b\u3073\u5c4b\u306e\u75c5\u6c17\u3067\u3001\u30d3\u30bf\u30df\u30f3B2\u306e\u5185\u670d\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u306b\u306a\u308b\u70b9\u306f\u5171\u901a\u3057\u3066\u3044\u307e\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>Green P, Wiseman M, Crow YJ, et al. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20orf54. <em>Am J Hum Genet<\/em>. 2010;86(3):485-489.<\/li>\n\n\n\n<li>Bosch AM, Abeling NG, Ijlst L, et al. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. <em>J Inherit Metab Dis<\/em>. 2011;34(1):159-164.<\/li>\n\n\n\n<li>Bosch AM, Stroek K, Abeling NG, et al. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. <em>Orphanet J Rare Dis<\/em>. 2012;7:83.<\/li>\n\n\n\n<li>Cali E, Dominik N, Manole A, Houlden H. Riboflavin Transporter Deficiency. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #211530 Brown-Vialetto-Van Laere syndrome 1. 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-147734","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\/147734","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\/147734\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147734"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}