{"id":136690,"date":"2026-09-08T12:23:10","date_gmt":"2026-09-08T03:23:10","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136690"},"modified":"2026-09-08T12:23:10","modified_gmt":"2026-09-08T03:23:10","slug":"mannosidosis-alpha-types-i-and-ii-man2b1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mannosidosis-alpha-types-i-and-ii-man2b1\/","title":{"rendered":"\u03b1-\u30de\u30f3\u30ce\u30b7\u30c9\u30fc\u30b7\u30b9\uff08I\u578b\u30fbII\u578b\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u03b1-\u30de\u30f3\u30ce\u30b7\u30c9\u30fc\u30b7\u30b9\u306f\u3001\u4f53\u306e\u306a\u304b\u3067\u4e0d\u8981\u306b\u306a\u3063\u305f\u7cd6\u305f\u3093\u3071\u304f\u8cea\u3092\u5206\u89e3\u3067\u304d\u305a\u3001\u7d30\u80de\u306e\u306a\u304b\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>MAN2B1<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u3001\u77e5\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u3001<strong>\u96e3\u8074<\/strong>\u3001\u9aa8\u306e\u5909\u5f62\u3001<strong>\u304f\u308a\u8fd4\u3059\u611f\u67d3\u75c7<\/strong>\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3059\u3002<strong>\u9175\u7d20\u3092\u88dc\u3046\u6cbb\u7642\uff08\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff09\u304c\u6b27\u5dde\u3067\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>MAN2B1<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u3067\u306f\u305f\u3089\u304f\u03b1-\u30de\u30f3\u30ce\u30b7\u30c0\u30fc\u30bc\u3068\u3044\u3046\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u7cd6\u305f\u3093\u3071\u304f\u8cea\u3092\u5206\u89e3\u3059\u308b\u904e\u7a0b\u3067\u3001\u30de\u30f3\u30ce\u30fc\u30b9\u3068\u3044\u3046\u7cd6\u3092\u5207\u308a\u96e2\u3059\u5f79\u76ee\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9175\u7d20\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u30de\u30f3\u30ce\u30fc\u30b9\u3092\u591a\u304f\u542b\u3080\u7cd6\u9396\uff08\u30aa\u30ea\u30b4\u7cd6\uff09\u304c\u7d30\u80de\u306e\u306a\u304b\u306b\u305f\u307e\u308a\u3001\u8133\u30fb\u9aa8\u30fb\u514d\u75ab\u306e\u306f\u305f\u3089\u304d\u3092\u305d\u3053\u306a\u3044\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><strong>\u96e3\u8074\uff08\u307b\u307c\u5168\u4f8b\u306b\u307f\u3089\u308c\u307e\u3059\u3002\u4e73\u5e7c\u5150\u671f\u304b\u3089\uff09<\/strong><\/li>\n\n\n\n<li>\u77e5\u7684\u306a\u767a\u9054\u306e\u9045\u308c\uff08\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u3053\u3068\u304c\u591a\u3044\uff09<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\uff08\u984d\u304c\u5f35\u308a\u51fa\u3059\u3001\u9f3b\u304c\u4f4e\u3044\u3001\u820c\u304c\u5927\u304d\u3044\uff09<\/li>\n\n\n\n<li>\u9aa8\u306e\u5909\u5f62\uff08\u591a\u767a\u6027\u7570\u9aa8\u75c7\uff09\u3001\u95a2\u7bc0\u306e\u75c7\u72b6\u3001\u4f4e\u8eab\u9577<\/li>\n\n\n\n<li><strong>\u304f\u308a\u8fd4\u3059\u611f\u67d3\u75c7\uff08\u4e2d\u8033\u708e\u3001\u80ba\u708e\uff09<\/strong>\uff1a\u514d\u75ab\u306e\u306f\u305f\u3089\u304d\u304c\u5f31\u3044\u305f\u3081<\/li>\n\n\n\n<li>\u6b69\u884c\u306e\u3075\u3089\u3064\u304d\uff08\u5c0f\u8133\u306e\u75c7\u72b6\uff09\u3001\u7b4b\u529b\u306e\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u89d2\u819c\u3084\u6c34\u6676\u4f53\u306e\u6df7\u6fc1<\/li>\n\n\n\n<li>\u7cbe\u795e\u75c7\u72b6\uff08\u601d\u6625\u671f\u4ee5\u964d\u306b\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b\uff09<\/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\u30de\u30f3\u30ce\u30fc\u30b9\u3092\u542b\u3080\u30aa\u30ea\u30b4\u7cd6\u306e\u5897\u52a0\u3092\u8abf\u3079\u3001\u767d\u8840\u7403\u3084\u57f9\u990a\u3057\u305f\u76ae\u819a\u306e\u7d30\u80de\u3067\u03b1-\u30de\u30f3\u30ce\u30b7\u30c0\u30fc\u30bc\u306e\u9175\u7d20\u6d3b\u6027\u3092\u6e2c\u5b9a\u3057\u3066\u8a3a\u65ad\u3057\u307e\u3059\u3002<strong>MAN2B1<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<strong>\u539f\u56e0\u4e0d\u660e\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306b\u96e3\u8074\u3068\u304f\u308a\u8fd4\u3059\u611f\u67d3\u75c7\u3092\u4f34\u3046\u5834\u5408\u306b\u306f\u3001\u3053\u306e\u75c5\u6c17\u3092\u8003\u3048\u307e\u3059<\/strong>\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\u30d9\u30eb\u30de\u30ca\u30fc\u30bc \u30a2\u30eb\u30d5\u30a1\uff0f\u30e9\u30df\u30bc\u30fc\u30b9\u00ae\u3002\u6b27\u5dde\u3067\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u56fd\u5185\u3067\u306e\u4f7f\u7528\u306b\u3064\u3044\u3066\u306f\u62c5\u5f53\u306e\u5148\u751f\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\uff09<\/li>\n\n\n\n<li><strong>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d<\/strong>\uff1a\u65e9\u671f\u306b\u884c\u3046\u3053\u3068\u3067\u3001\u77e5\u7684\u767a\u9054\u3068\u8074\u529b\u306e\u60aa\u5316\u3092\u6291\u3048\u3089\u308c\u305f\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u88dc\u8074\u5668\u306b\u3088\u308b\u8074\u899a\u306e\u652f\u63f4\uff08\u65e9\u671f\u304b\u3089\u91cd\u8981\u3067\u3059\uff09<\/strong><\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\u306e\u4e88\u9632\u3068\u65e9\u671f\u6cbb\u7642<\/li>\n\n\n\n<li>\u7406\u5b66\u7642\u6cd5\u3001\u6574\u5f62\u5916\u79d1\u7684\u306a\u6cbb\u7642<\/li>\n\n\n\n<li>\u7642\u80b2\u30fb\u6559\u80b2\u9762\u3067\u306e\u652f\u63f4<\/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>MAN2B1<\/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>MAN2B1<\/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>\u03b1-\u30de\u30f3\u30ce\u30b7\u30c9\u30fc\u30b7\u30b9\u306f <strong>MAN2B1<\/strong>\uff0819p13.13\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u6027\u03b1-\u30de\u30f3\u30ce\u30b7\u30c0\u30fc\u30bc\u306e\u6b20\u640d\u306b\u3088\u308a\u3001\u30de\u30f3\u30ce\u30fc\u30b9\u542b\u6709\u30aa\u30ea\u30b4\u7cd6\u304c\u84c4\u7a4d\u3059\u308b\u3002\u983b\u5ea6\u306f1\/500,000\u301c1,000,000\u3002<\/p>\n\n\n\n<p>\u5f93\u6765\u306fI\u578b\uff08\u91cd\u75c7\u30fb\u4e73\u5150\u578b\uff09\u3068II\u578b\uff08\u4e2d\u7b49\u75c7\u30fb\u82e5\u5e74\u578b\uff09\u306b\u5206\u3051\u3089\u308c\u3066\u304d\u305f\u304c\u3001\u5b9f\u969b\u306b\u306f\u9023\u7d9a\u7684\u306a\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3067\u3042\u308b\u3002<strong>\u96e3\u8074\u306f\u307b\u307c\u5168\u4f8b\u306b\u8a8d\u3081\u3089\u308c\u3001\u6700\u3082\u4e00\u8cab\u3057\u305f\u6240\u898b<\/strong>\u3067\u3042\u308b\u3002\u611f\u97f3\u96e3\u8074\u3068\u4f1d\u97f3\u96e3\u8074\u306e\u6df7\u5408\u578b\u3092\u3068\u308b\u3002<\/p>\n\n\n\n<p>\u514d\u75ab\u4e0d\u5168\uff08\u597d\u4e2d\u7403\u6a5f\u80fd\u7570\u5e38\u3001\u4f4e\u30ac\u30f3\u30de\u30b0\u30ed\u30d6\u30ea\u30f3\u8840\u75c7\uff09\u306b\u3088\u308b\u53cd\u5fa9\u611f\u67d3\u304c\u7279\u5fb4\u7684\u3067\u3001\u3053\u308c\u304c\u672c\u75c7\u3092\u4ed6\u306e\u30aa\u30ea\u30b4\u7cd6\u84c4\u7a4d\u75c7\u304b\u3089\u533a\u5225\u3059\u308b\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p><strong>\u30d9\u30eb\u30de\u30ca\u30fc\u30bc \u30a2\u30eb\u30d5\u30a1\uff08velmanase alfa\uff09<\/strong>\u306f2018\u5e74\u306bEMA\u304c\u627f\u8a8d\u3057\u305f\u7d44\u63db\u3048\u30d2\u30c8\u03b1-\u30de\u30f3\u30ce\u30b7\u30c0\u30fc\u30bc\u3067\u3001\u8840\u6e05\u30aa\u30ea\u30b4\u7cd6\u306e\u6e1b\u5c11\u3068\u904b\u52d5\u6a5f\u80fd\u30fb\u514d\u75ab\u6307\u6a19\u306e\u6539\u5584\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u305f\u3060\u3057<strong>\u8840\u6db2\u8133\u95a2\u9580\u3092\u8d8a\u3048\u306a\u3044\u305f\u3081\u4e2d\u67a2\u795e\u7d4c\u75c7\u72b6\u306b\u306f\u7121\u52b9<\/strong>\u3067\u3042\u308a\u3001\u795e\u7d4c\u5b66\u7684\u8ee2\u5e30\u306e\u6539\u5584\u3092\u671f\u5f85\u3059\u308b\u5834\u5408\u306f\u65e9\u671f\u306e\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u304c\u9078\u629e\u80a2\u3068\u306a\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. \u96e3\u8074\u306f\u5fc5\u305a\u8d77\u3053\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u307b\u307c\u3059\u3079\u3066\u306e\u65b9\u306b\u307f\u3089\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002\u4e73\u5e7c\u5150\u671f\u304b\u3089\u88dc\u8074\u5668\u3092\u4f7f\u3046\u3053\u3068\u3067\u3001\u3053\u3068\u3070\u306e\u767a\u9054\u3092\u52a9\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u611f\u67d3\u75c7\u3092\u304f\u308a\u8fd4\u3057\u307e\u3059\u3002<\/h3>\n\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u514d\u75ab\u306e\u306f\u305f\u3089\u304d\u304c\u5f31\u304f\u306a\u308b\u305f\u3081\u3001\u4e2d\u8033\u708e\u3084\u80ba\u708e\u3092\u304f\u308a\u8fd4\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u3081\u306e\u53d7\u8a3a\u3068\u4e88\u9632\u304c\u5927\u5207\u3067\u3059\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\u6cbb\u7642\u304c\u6b27\u5dde\u3067\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u56fd\u5185\u3067\u306e\u4f7f\u7528\u306b\u3064\u3044\u3066\u306f\u62c5\u5f53\u306e\u5148\u751f\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002\u307e\u305f\u3001\u65e9\u671f\u306e\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u9175\u7d20\u88dc\u5145\u7642\u6cd5\u3067\u77e5\u7684\u306a\u767a\u9054\u3082\u3088\u304f\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u70b9\u6ef4\u3057\u305f\u9175\u7d20\u306f\u8133\u3078\u5c4a\u304d\u306b\u304f\u3044\u305f\u3081\u3001\u4e2d\u67a2\u795e\u7d4c\u306e\u75c7\u72b6\u3078\u306e\u52b9\u679c\u306f\u9650\u3089\u308c\u307e\u3059\u3002\u4f53\u306e\u75c7\u72b6\u306b\u306f\u52b9\u679c\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u5b50\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u3067\u3059\u3002\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u306e\u5834\u5408\u3001\u598a\u5a20\u306e\u305f\u3073\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\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>Nilssen O, Berg T, Riise HM, et al. alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. <em>Hum Mol Genet<\/em>. 1997;6(5):717-726.<\/li>\n\n\n\n<li>Malm D, Nilssen \u00d8. Alpha-mannosidosis. <em>Orphanet J Rare Dis<\/em>. 2008;3:21.<\/li>\n\n\n\n<li>Borgwardt L, Guffon N, Amraoui Y, et al. Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial. <em>J Inherit Metab Dis<\/em>. 2018;41(6):1215-1223.<\/li>\n\n\n\n<li>OMIM #248500 Mannosidosis, alpha B, lysosomal<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136690","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\/136690","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\/136690\/revisions"}],"predecessor-version":[{"id":137060,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136690\/revisions\/137060"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136690"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}