{"id":136984,"date":"2026-09-08T12:24:42","date_gmt":"2026-09-08T03:24:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136984"},"modified":"2026-09-08T12:24:42","modified_gmt":"2026-09-08T03:24:42","slug":"hyperphosphatasia-with-mental-retardation-syndrome-2-pigo","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hyperphosphatasia-with-mental-retardation-syndrome-2-pigo\/","title":{"rendered":"\u9ad8\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u8840\u75c7\u30fb\u77e5\u7684\u969c\u5bb3\u75c7\u5019\u7fa42\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p>\u9ad8\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u8840\u75c7\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u75c7\u5019\u7fa42\u578b\u306f\u3001<strong>\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3084\u3051\u3044\u308c\u3093\u3068\u3068\u3082\u306b\u3001\u8840\u6db2\u691c\u67fb\u3067\u30a2\u30eb\u30ab\u30ea\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\uff08ALP\uff09\u3068\u3044\u3046\u9175\u7d20\u304c\u9ad8\u304f\u306a\u308b<\/strong>\u3053\u3068\u3092\u7279\u5fb4\u3068\u3059\u308b\u75c5\u6c17\u3067\u3059\u3002\u300c\u30de\u30d6\u30ea\u30fc\u75c7\u5019\u7fa4\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>PIGO<\/strong>\uff089p13.3\uff09\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p><strong>ALP\u304c\u9ad8\u3044\u3053\u3068\u306f\u3001\u3053\u306e\u75c5\u6c17\u3092\u898b\u3064\u3051\u308b\u5927\u5207\u306a\u624b\u304c\u304b\u308a\u3067\u3059\u3002<\/strong>\u767a\u9054\u306e\u9045\u308c\u306e\u539f\u56e0\u3092\u8abf\u3079\u308b\u904e\u7a0b\u3067\u5076\u7136ALP\u306e\u9ad8\u5024\u304c\u898b\u3064\u304b\u308a\u3001\u305d\u3053\u304b\u3089\u3053\u306e\u75c5\u6c17\u306b\u305f\u3069\u308a\u3064\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<strong>ALP\u306e\u9ad8\u5024\u306f\u9aa8\u306e\u75c5\u6c17\u3092\u610f\u5473\u3059\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u9175\u7d20\u304c\u7d30\u80de\u306b\u3068\u3069\u307e\u308c\u305a\u306b\u8840\u6db2\u3078\u6d41\u308c\u51fa\u3057\u3066\u3044\u308b\u305f\u3081\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<p>\u9ad8\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u8840\u75c7\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u75c7\u5019\u7fa42\u578b\u3067\u306f\u3001\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3001\u3051\u3044\u308c\u3093\u3001\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\u304c\u307f\u3089\u308c\u30011\u578b\u3068\u540c\u3058\u304f<strong>\u6307\u5148\u306e\u9aa8\u304c\u77ed\u3044\u3053\u3068<\/strong>\u3068\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u3092\u4f34\u3044\u307e\u3059\u3002<strong>\u809b\u9580\u306e\u5f62\u306e\u7570\u5e38\uff08\u9396\u809b\u306a\u3069\uff09\u3092\u4f34\u3046\u5831\u544a<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002\u8840\u6db2\u691c\u67fb\u3067\u306f\u30a2\u30eb\u30ab\u30ea\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\uff08ALP\uff09\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p><strong>PIGO<\/strong> 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class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>PIGO<\/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>\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>PIGO<\/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<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n<p>\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\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\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>GPI\u30a2\u30f3\u30ab\u30fc\u6b20\u640d\u75c7\uff08inherited GPI deficiency, IGD\uff09\u306f\u3001<strong>\u30b0\u30ea\u30b3\u30b7\u30eb\u30db\u30b9\u30d5\u30a1\u30c1\u30b8\u30eb\u30a4\u30ce\u30b7\u30c8\u30fc\u30eb\uff08GPI\uff09\u30a2\u30f3\u30ab\u30fc\u306e\u751f\u5408\u6210\u30fb\u79fb\u884c\u30fb\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u6027\u5909\u7570<\/strong>\u306b\u3088\u308a\u751f\u3058\u308b\u3002\u30d2\u30c8\u3067\u306f<strong>150\u7a2e\u985e\u4ee5\u4e0a\u306e\u305f\u3093\u3071\u304f\u8cea\u304cGPI\u30a2\u30f3\u30ab\u30fc\u578b<\/strong>\u3067\u3042\u308a\u3001<strong>\u7d44\u7e54\u975e\u7279\u7570\u578b\u30a2\u30eb\u30ab\u30ea\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\uff08ALPL\u7523\u7269\uff09\u3082\u305d\u306e\u3072\u3068\u3064<\/strong>\u3067\u3042\u308b\u3002GPI\u30a2\u30f3\u30ab\u30fc\u306e\u6210\u719f\u304c\u4e0d\u5b8c\u5168\u3060\u3068ALP\u306f\u819c\u306b\u4fdd\u6301\u3055\u308c\u305a\u8840\u4e2d\u3078\u904a\u96e2\u3059\u308b\u305f\u3081\u3001<strong>\u9ad8ALP\u8840\u75c7\u306f\u9aa8\u4ee3\u8b1d\u4ea2\u9032\u3067\u306f\u306a\u304f\u300c\u4fc2\u7559\u306e\u5931\u6557\u300d\u3092\u53cd\u6620\u3059\u308b<\/strong>\u3002<\/p>\n\n\n<p><strong>PIGO<\/strong>\uff089p13.3\uff09\u306fGPI\u30a2\u30f3\u30ab\u30fc\u306e\u7b2c3\u30de\u30f3\u30ce\u30fc\u30b9\u306b\u30a8\u30bf\u30ce\u30fc\u30eb\u30a2\u30df\u30f3\u30ea\u30f3\u9178\uff08EtNP-3\uff09\u3092\u4ed8\u52a0\u3059\u308b\u9175\u7d20\u3067\u3001<strong>\u3053\u306e\u4fee\u98fe\u304c\u306a\u3051\u308c\u3070\u305f\u3093\u3071\u304f\u8cea\u306fGPI\u30a2\u30f3\u30ab\u30fc\u3078\u79fb\u884c\u3067\u304d\u306a\u3044<\/strong>\u3002PIGV\u3068\u540c\u69d8\u306b\u9ad8ALP\u8840\u75c7\u3092\u4f34\u3046\u304c\u3001<strong>ALP\u306e\u4e0a\u6607\u306f\u300cGPI\u30a2\u30f3\u30ab\u30fc\u306b\u7e4b\u304c\u308c\u306a\u3044\u7d44\u7e54\u975e\u7279\u7570\u578bALP\u304c\u8840\u4e2d\u306b\u904a\u96e2\u3059\u308b\u300d\u3053\u3068\u306b\u3088\u308b<\/strong>\u2014\u2014\u3059\u306a\u308f\u3061<strong>\u9aa8\u4ee3\u8b1d\u306e\u4ea2\u9032\u3092\u610f\u5473\u3057\u306a\u3044\u305f\u3081\u3001ALP\u9ad8\u5024\u3092\u307f\u3066\u9aa8\u75be\u60a3\u3068\u8aa4\u3089\u306a\u3044\u3053\u3068\u304c\u91cd\u8981<\/strong>\u3067\u3042\u308b\u3002\u809b\u9580\u76f4\u8178\u5947\u5f62\u306e\u5408\u4f75\u5831\u544a\u304c\u3042\u308b\u3002<\/p>\n\n\n<p>IGD\u306f\u5927\u304d\u304f\u3001<strong>\u2460\u9ad8ALP\u8840\u75c7\u3092\u4f34\u3046\u7fa4\uff08\u30de\u30d6\u30ea\u30fc\u75c7\u5019\u7fa4\u578b\uff1a<em>PIGV<\/em>\u3001<em>PIGO<\/em>\u3001<em>PIGW<\/em>\u3001<em>PGAP2<\/em>\u3001<em>PGAP3<\/em>\uff09<\/strong>\u3068\u3001<strong>\u2461ALP\u304c\u6b63\u5e38\u301c\u4f4e\u5024\u306e\u7fa4\uff08<em>PIGA<\/em>\u3001<em>PIGT<\/em>\u3001<em>PIGN<\/em> \u306a\u3069\uff09<\/strong>\u306b\u5206\u3051\u3089\u308c\u308b\u3002\u9ad8ALP\u8840\u75c7\u3092\u793a\u3059\u306e\u306f\u3001<strong>EtNP-2\u306e\u9664\u53bb\uff08PGAP5\uff09\u3084GPI\u79fb\u884c\u306e\u76f4\u524d\u6bb5\u968e\u304c\u4fdd\u305f\u308c\u3066\u3044\u308b\u5834\u5408\u306b\u9650\u3089\u308c\u308b<\/strong>\u305f\u3081\u3067\u3042\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001<strong>\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7\uff08ALP\u4f4e\u5024\u3067\u6b63\u53cd\u5bfe\uff09<\/strong>\u3001Coffin-Siris\u75c7\u5019\u7fa4\u3001Kabuki\u75c7\u5019\u7fa4\u306a\u3069\u300c\u7279\u7570\u7684\u9854\u8c8c\uff0b\u6307\u8dbe\u306e\u4f4e\u5f62\u6210\uff0b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u300d\u3092\u793a\u3059\u75c7\u5019\u7fa4\u304c\u6319\u304c\u308b\u3002<strong>\u4f53\u7d30\u80de\u5909\u7570\u306b\u3088\u308b<em>PIGA<\/em> \u6b20\u640d\u306f\u767a\u4f5c\u6027\u591c\u9593\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u5c3f\u75c7\u3092\u751f\u3058\u308b\u304c\u3001\u751f\u6b96\u7d30\u80de\u7cfb\u5217\u306e\u672c\u75c7\u3068\u306f\u5225\u306e\u75c5\u614b\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. ALP\u304c\u9ad8\u3044\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u304c\u3001\u9aa8\u306f\u5927\u4e08\u592b\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u3053\u306e\u75c5\u6c17\u306eALP\u9ad8\u5024\u306f\u3001\u9aa8\u306e\u7570\u5e38\u3092\u610f\u5473\u3057\u307e\u305b\u3093\u3002<\/strong>\u672c\u6765\u306f\u7d30\u80de\u306e\u8868\u9762\u306b\u3064\u306a\u304c\u308c\u3066\u3044\u308b\u306f\u305a\u306e\u9175\u7d20\u304c\u3001\u8840\u6db2\u4e2d\u306b\u6d41\u308c\u51fa\u3057\u3066\u3044\u308b\u305f\u3081\u306b\u9ad8\u304f\u51fa\u3066\u3044\u307e\u3059\u3002ALP\u306e\u6570\u5024\u305d\u306e\u3082\u306e\u3092\u4e0b\u3052\u308b\u6cbb\u7642\u306f\u5fc5\u8981\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002\u305f\u3060\u3057<strong>GPI\u30a2\u30f3\u30ab\u30fc\u6b20\u640d\u75c7\u5168\u4f53\u3067\u306f\u3001\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u306e\u9045\u308c\u3068\u3066\u3093\u304b\u3093\u306e1\u301c2%\u3092\u5360\u3081\u308b<\/strong>\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u3001\u898b\u843d\u3068\u3055\u308c\u3066\u3044\u308b\u4f8b\u304c\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3051\u3044\u308c\u3093\u306e\u6cbb\u7642\u3067\u6c17\u3092\u3064\u3051\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. GPI\u30a2\u30f3\u30ab\u30fc\u306e\u75c5\u6c17\u3067\u306f\u3001<strong>\u30d3\u30bf\u30df\u30f3B6\uff08\u30d4\u30ea\u30c9\u30ad\u30b7\u30f3\uff09\u304c\u6709\u52b9\u3060\u3063\u305f\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u306e\u5834\u5408\u3001\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u306e\u3046\u3048\u8a66\u307f\u308b\u4fa1\u5024\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. ALP\u304c\u9ad8\u3044\u306e\u306f\u9aa8\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3044\u3044\u3048\u3002\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u9175\u7d20\u304c\u7d30\u80de\u306b\u3068\u3069\u307e\u308c\u305a\u8840\u6db2\u4e2d\u306b\u6d41\u308c\u51fa\u3059\u305f\u3081\u306bALP\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002\u9aa8\u306e\u7570\u5e38\u3092\u610f\u5473\u3059\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\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>A. \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\u6b63\u78ba\u306a\u898b\u901a\u3057\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\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>Kinoshita T. Biosynthesis and biology of mammalian GPI-anchored proteins. <em>Open Biol<\/em>. 2020;10(3):190290.<\/li>\n\n\n\n<li>Bellai-Dussault K, Nguyen TTM, Baratang NV, Jimenez-Cruz DA, Campeau PM. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders. <em>Clin Genet<\/em>. 2019;95(1):112-121.<\/li>\n\n\n\n<li>Knaus A, Pantel JT, Pendziwiat M, et al. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. <em>Genome Med<\/em>. 2018;10(1):3.<\/li>\n\n\n\n<li>Krawitz PM, Murakami Y, Hecht J, et al. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. <em>Am J Hum Genet<\/em>. 2012;91(1):146-151.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136984","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\/136984","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136984\/revisions"}],"predecessor-version":[{"id":137302,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136984\/revisions\/137302"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136984"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}