{"id":136670,"date":"2026-09-08T12:23:02","date_gmt":"2026-09-08T03:23:02","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136670"},"modified":"2026-09-08T12:23:02","modified_gmt":"2026-09-08T03:23:02","slug":"mucopolysaccharidosis-iva-galns","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-iva-galns\/","title":{"rendered":"\u30e0\u30b3\u591a\u7cd6\u75c7IVA\u578b\uff08\u30e2\u30eb\u30ad\u30aaA\u75c7\u5019\u7fa4\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u30e0\u30b3\u591a\u7cd6\u75c7IVA\u578b\uff08\u30e2\u30eb\u30ad\u30aaA\u75c7\u5019\u7fa4\uff09\u306f\u3001\u4f53\u306e\u306a\u304b\u3067\u4e0d\u8981\u306b\u306a\u3063\u305f\u7cd6\u306e\u9396\uff08\u30e0\u30b3\u591a\u7cd6\uff09\u3092\u5206\u89e3\u3067\u304d\u305a\u3001\u3068\u304f\u306b<strong>\u9aa8\u3068\u8edf\u9aa8<\/strong>\u306b\u305f\u307e\u3063\u3066\u3044\u304f\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>GALNS<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f4e\u8eab\u9577\u3068\u9aa8\u683c\u306e\u5909\u5f62\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3001<strong>\u77e5\u7684\u306a\u767a\u9054\u306f\u4fdd\u305f\u308c\u307e\u3059<\/strong>\u3002\u9996\u306e\u9aa8\uff08\u9838\u690e\uff09\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308a\u3084\u3059\u304f\u3001\u810a\u9ac4\u304c\u5727\u8feb\u3055\u308c\u308b\u306e\u3092\u9632\u3050\u3053\u3068\u304c\u3001\u3053\u306e\u75c5\u6c17\u306e\u7ba1\u7406\u3067\u3082\u3063\u3068\u3082\u5927\u5207\u306a\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>GALNS<\/strong> \u907a\u4f1d\u5b50\u306f\u3001N-\u30a2\u30bb\u30c1\u30eb\u30ac\u30e9\u30af\u30c8\u30b5\u30df\u30f3-6-\u786b\u9178\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\u3068\u3044\u3046\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u3067\u30b1\u30e9\u30bf\u30f3\u786b\u9178\u3068\u30b3\u30f3\u30c9\u30ed\u30a4\u30c1\u30f3-6-\u786b\u9178\u3092\u5206\u89e3\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9175\u7d20\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u30b1\u30e9\u30bf\u30f3\u786b\u9178\u304c\u5206\u89e3\u3055\u308c\u305a\u3001\u9aa8\u30fb\u8edf\u9aa8\u30fb\u89d2\u819c\u30fb\u5fc3\u81d3\u306e\u5f01\u306b\u305f\u307e\u308a\u307e\u3059\u3002\u9aa8\u3084\u8edf\u9aa8\u306f\u4f53\u306e\u9aa8\u7d44\u307f\u3092\u4f5c\u308b\u7d44\u7e54\u306a\u306e\u3067\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5f62\u304c\u76ee\u7acb\u3063\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8457\u3057\u3044\u4f4e\u8eab\u9577\uff08\u6210\u4eba\u8eab\u9577\u306f100\u301c140cm\u7a0b\u5ea6\u306e\u3053\u3068\u304c\u591a\u3044\uff09<\/li>\n\n\n\n<li>\u80f8\u304c\u524d\u306b\u7a81\u304d\u51fa\u308b\u5909\u5f62\uff08\u9ce9\u80f8\uff09\u3001\u810a\u67f1\u306e\u5f8c\u5f2f\u30fb\u5074\u5f2f<\/li>\n\n\n\n<li><strong>\u9838\u690e\uff08\u6b6f\u7a81\u8d77\uff09\u306e\u4f4e\u5f62\u6210\u306b\u3088\u308b\u9996\u306e\u4e0d\u5b89\u5b9a\u3055 \u2192 \u810a\u9ac4\u306e\u5727\u8feb<\/strong><\/li>\n\n\n\n<li>\u304c\u306b\u80a1\u30fbX\u811a\u3001\u95a2\u7bc0\u304c\u3086\u308b\u3044\uff08\u4ed6\u306e\u30e0\u30b3\u591a\u7cd6\u75c7\u3068\u7570\u306a\u308a\u95a2\u7bc0\u304c\u786c\u304f\u306a\u3089\u306a\u3044\uff09<\/li>\n\n\n\n<li>\u89d2\u819c\u306e\u6fc1\u308a\u3001\u96e3\u8074<\/li>\n\n\n\n<li>\u5fc3\u81d3\u306e\u5f01\u306e\u7570\u5e38<\/li>\n\n\n\n<li>\u547c\u5438\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3001\u7761\u7720\u6642\u7121\u547c\u5438<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u306a\u767a\u9054\u306f\u4fdd\u305f\u308c\u307e\u3059<\/strong><\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u5c3f\u4e2d\u306e\u30b1\u30e9\u30bf\u30f3\u786b\u9178\u306e\u5897\u52a0\u3092\u8abf\u3079\u3001\u767d\u8840\u7403\u3084\u57f9\u990a\u3057\u305f\u76ae\u819a\u306e\u7d30\u80de\u3067GALNS\u306e\u9175\u7d20\u6d3b\u6027\u3092\u6e2c\u5b9a\u3057\u3066\u8a3a\u65ad\u3057\u307e\u3059\u3002<strong>GALNS<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002\u9aa8\u306eX\u7dda\u691c\u67fb\uff08\u591a\u767a\u6027\u7570\u9aa8\u75c7\uff09\u3082\u8a3a\u65ad\u306e\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9175\u7d20\u88dc\u5145\u7642\u6cd5<\/strong>\uff08\u30a8\u30ed\u30b9\u30eb\u30d5\u30a1\u30fc\u30bc \u30a2\u30eb\u30d5\u30a1\uff0f\u30d3\u30df\u30b8\u30e0\u00ae\u306e\u70b9\u6ef4\u3002\u56fd\u5185\u3067\u3082\u4f7f\u7528\u3067\u304d\u307e\u3059\uff09<\/li>\n\n\n\n<li><strong>\u9838\u690e\u306e\u8a55\u4fa1\u3068\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u5f8c\u982d\u9aa8\u9838\u690e\u56fa\u5b9a\u8853<\/strong>\uff08\u810a\u9ac4\u306e\u5727\u8feb\u3092\u9632\u3050\u305f\u3081\u3001\u3082\u3063\u3068\u3082\u91cd\u8981\u306a\u6cbb\u7642\u306e\u3072\u3068\u3064\u3067\u3059\uff09<\/li>\n\n\n\n<li>\u810a\u67f1\u30fb\u4e0b\u80a2\u306e\u5909\u5f62\u306b\u5bfe\u3059\u308b\u6574\u5f62\u5916\u79d1\u7684\u624b\u8853<\/li>\n\n\n\n<li>\u547c\u5438\u306e\u30b5\u30dd\u30fc\u30c8\uff08\u7761\u7720\u6642\u7121\u547c\u5438\u306b\u5bfe\u3059\u308bCPAP\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u9838\u690eMRI\u3001\u5fc3\u30a8\u30b3\u30fc\u3001\u8074\u529b\u691c\u67fb\u3001\u773c\u79d1\u306e\u8a3a\u5bdf<\/li>\n\n\n\n<li><strong>\u9838\u90e8\u306b\u8ca0\u62c5\u306e\u304b\u304b\u308b\u904b\u52d5\u3084\u3001\u9838\u90e8\u3092\u5f37\u304f\u5f8c\u5c48\u3055\u305b\u308b\u59ff\u52e2\u3092\u907f\u3051\u308b<\/strong><\/li>\n\n\n<\/ul>\n\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\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>GALNS<\/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\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\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>GALNS<\/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\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\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\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\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u30e0\u30b3\u591a\u7cd6\u75c7IVA\u578b\u306f <strong>GALNS<\/strong>\uff0816q24.3\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308a\u751f\u3058\u308b\u3002N-acetylgalactosamine-6-sulfate sulfatase \u306e\u6b20\u640d\u306b\u3088\u308a\u30b1\u30e9\u30bf\u30f3\u786b\u9178\u304a\u3088\u3073\u30b3\u30f3\u30c9\u30ed\u30a4\u30c1\u30f3-6-\u786b\u9178\u304c\u84c4\u7a4d\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u4ed6\u306e\u30e0\u30b3\u591a\u7cd6\u75c7\u3068\u7570\u306a\u308a\u3001<strong>\u95a2\u7bc0\u306f\u62d8\u7e2e\u305b\u305a\u3080\u3057\u308d\u5f1b\u7de9\u6027\u3092\u793a\u3059<\/strong>\u70b9\u3001\u4e2d\u67a2\u795e\u7d4c\u306e\u5b9f\u8cea\u75c5\u5909\u3092\u6b20\u304d\u77e5\u80fd\u304c\u6b63\u5e38\u3067\u3042\u308b\u70b9\u304c\u7279\u5fb4\u7684\u3067\u3042\u308b\u3002\u9aa8\u7cfb\u7d71\u75c5\u5909\uff08dysostosis multiplex\uff09\u304c\u524d\u666f\u306b\u7acb\u3061\u3001\u6210\u4eba\u8eab\u9577\u306f\u8457\u3057\u304f\u4f4e\u3044\u3002<\/p>\n\n\n\n<p><strong>\u6b6f\u7a81\u8d77\u4f4e\u5f62\u6210\uff08odontoid hypoplasia\uff09\u306b\u3088\u308b\u74b0\u8ef8\u690e\u4e0d\u5b89\u5b9a\u6027<\/strong>\u306f\u672c\u75c7\u306e\u6700\u91cd\u8981\u5408\u4f75\u75c7\u3067\u3001\u8efd\u5fae\u306a\u5916\u50b7\u3084\u9838\u90e8\u5f8c\u5c48\u3067\u810a\u9ac4\u640d\u50b7\u3092\u304d\u305f\u3057\u3046\u308b\u3002\u9ebb\u9154\u30fb\u633f\u7ba1\u6642\u306e\u9838\u90e8\u64cd\u4f5c\u306f\u3068\u304f\u306b\u5371\u967a\u3067\u3042\u308a\u3001\u5468\u8853\u671f\u306b\u306f fiberoptic \u633f\u7ba1\u306a\u3069\u9838\u90e8\u3092\u52d5\u304b\u3055\u306a\u3044\u65b9\u6cd5\u304c\u63a8\u5968\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u30a8\u30ed\u30b9\u30eb\u30d5\u30a1\u30fc\u30bc \u30a2\u30eb\u30d5\u30a1\u306b\u3088\u308b\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u3067\u30016\u5206\u9593\u6b69\u884c\u8ddd\u96e2\u306e\u6539\u5584\u304c\u7b2c3\u76f8\u8a66\u9a13\u3067\u793a\u3055\u308c\u3066\u3044\u308b\u3002\u305f\u3060\u3057\u9aa8\u30fb\u8edf\u9aa8\u3078\u306e\u5230\u9054\u6027\u306f\u9650\u5b9a\u7684\u3067\u3001\u6574\u5f62\u5916\u79d1\u7684\u4ecb\u5165\u3068\u306e\u4f75\u7528\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u306e\u6709\u52b9\u6027\u306b\u3064\u3044\u3066\u306f\u8b70\u8ad6\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u9996\u306e\u9aa8\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. \u306f\u3044\u3002\u9996\u306e\u9aa8\uff08\u6b6f\u7a81\u8d77\uff09\u304c\u80b2\u3061\u306b\u304f\u304f\u3001\u9996\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308a\u3084\u3059\u3044\u75c5\u6c17\u3067\u3059\u3002\u810a\u9ac4\u304c\u5727\u8feb\u3055\u308c\u308b\u3068\u91cd\u3044\u969c\u5bb3\u304c\u6b8b\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306aMRI\u3068\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u56fa\u5b9a\u8853\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u7684\u306a\u767a\u9054\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u77e5\u7684\u306a\u767a\u9054\u306f\u4fdd\u305f\u308c\u307e\u3059\u3002\u5b66\u696d\u3084\u5c31\u52b4\u3092\u3055\u308c\u3066\u3044\u308b\u65b9\u304c\u591a\u304f\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30b9\u30dd\u30fc\u30c4\u306f\u3067\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u9996\u306b\u8ca0\u62c5\u306e\u304b\u304b\u308b\u904b\u52d5\uff08\u30de\u30c3\u30c8\u904b\u52d5\u3001\u67d4\u9053\u3001\u98db\u3073\u8fbc\u307f\u306a\u3069\uff09\u306f\u907f\u3051\u3066\u304f\u3060\u3055\u3044\u3002\u3069\u3053\u307e\u3067\u53ef\u80fd\u304b\u306f\u62c5\u5f53\u306e\u5148\u751f\u3068\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u624b\u8853\u306e\u3068\u304d\u306e\u6ce8\u610f\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u9996\u3092\u52d5\u304b\u3055\u306a\u3044\u633f\u7ba1\u65b9\u6cd5\u304c\u5fc5\u8981\u3067\u3059\u3002<\/strong>\u5fc5\u305a\u75c5\u540d\u3068\u9838\u690e\u306e\u72b6\u614b\u3092\u9ebb\u9154\u79d1\u306e\u5148\u751f\u306b\u304a\u4f1d\u3048\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u9175\u7d20\u3092\u70b9\u6ef4\u3067\u88dc\u3046\u300c\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u300d\u304c\u56fd\u5185\u3067\u3082\u4f7f\u7528\u3067\u304d\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u6574\u5f62\u5916\u79d1\u7684\u306a\u6cbb\u7642\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Tomatsu S, Monta\u00f1o AM, Oikawa H, et al. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. <em>Curr Pharm Biotechnol<\/em>. 2011;12(6):931-945.<\/li>\n\n\n\n<li>Hendriksz CJ, Burton B, Fleming TR, et al. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. <em>J Inherit Metab Dis<\/em>. 2014;37(6):979-990.<\/li>\n\n\n\n<li>Solanki GA, Martin KW, Theroux MC, et al. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. <em>J Inherit Metab Dis<\/em>. 2013;36(2):339-355.<\/li>\n\n\n\n<li>Regier DS, Oetgen M, Tanpaiboon P. Mucopolysaccharidosis Type IVA. In: <em>GeneReviews\u00ae<\/em>. University of Washington, Seattle.<\/li>\n\n\n\n<li>OMIM #253000 Mucopolysaccharidosis type IVA<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136670","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\/136670","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\/136670\/revisions"}],"predecessor-version":[{"id":137040,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136670\/revisions\/137040"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136670"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}