{"id":33580,"date":"2022-07-11T17:03:03","date_gmt":"2022-07-11T08:03:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33580"},"modified":"2026-05-08T12:31:32","modified_gmt":"2026-05-08T03:31:32","slug":"aspartylglycosaminuria","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aspartylglycosaminuria\/","title":{"rendered":"\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\u5c3f\u75c7"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\u5c3f\u75c7\uff08Aspartylglucosaminuria, AGU\uff09\u306f\u3001\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u75c5\u306b\u5206\u985e\u3055\u308c\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001AGU\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6700\u65b0\u306e\u6cbb\u7642\u7814\u7a76\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u306e\u91cd\u8981\u6027\u3084\u60a3\u8005\u652f\u63f4\u306e\u53d6\u308a\u7d44\u307f\u306b\u3064\u3044\u3066\u3082\u7d39\u4ecb\u3057\u3001AGU\u306b\u95a2\u3059\u308b\u6700\u65b0\u306e\u77e5\u8b58\u3092\u304a\u5c4a\u3051\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>AGA\uff5cAspartylglycosaminuria<\/p>\n\n\n\n<p><sup>AGU; Aspartylglucosamidase Deficiency; AGA Deficiency; <\/sup><sup>Glycosylasparaginase Deficiency; Hyperammonemia, Type Iii;  <\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p><strong>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\u5c3f\u75c7\uff08Aspartylglucosaminuria, AGU\uff09<\/strong> \u306f\u3001\u907a\u4f1d\u6027\u306e<strong>\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u75c5<\/strong>\uff08Lysosomal Storage Disorder, LSD\uff09\u306b\u5206\u985e\u3055\u308c\u308b<strong>\u5e0c\u5c11\u75be\u60a3<\/strong>\uff08rare disease\uff09\u3067\u3059\u3002\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u3068\u306f\u3001\u7d30\u80de\u5185\u3067\u4e0d\u8981\u306a\u7269\u8cea\u3092\u5206\u89e3\u3059\u308b\u300c\u7d30\u80de\u306e\u30ea\u30b5\u30a4\u30af\u30eb\u30bb\u30f3\u30bf\u30fc\u300d\u306e\u3088\u3046\u306a\u50cd\u304d\u3092\u3059\u308b\u5c0f\u3055\u306a\u69cb\u9020\uff08\u5c0f\u5668\u5b98\uff09\u306e\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>AGU\u306f\u3001<strong>\u7b2c4\u67d3\u8272\u4f53\u306eAGA\u907a\u4f1d\u5b50\u306b\u751f\u3058\u305f\u5909\u7570<\/strong>\uff08pathogenic variant\uff09\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306eAGA\u907a\u4f1d\u5b50\u306f\u3001<strong>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30cb\u30c0\u30fc\u30bc\uff08Aspartylglucosaminidase, AGA\uff09<\/strong> \u3068\u3044\u3046\u9175\u7d20\u3092\u4f5c\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001<strong>\u7cd6\u30bf\u30f3\u30d1\u30af\u8cea\uff08N-\u7d50\u5408\u578b\u7cd6\u30bf\u30f3\u30d1\u30af\u8cea\uff09<\/strong> \u3092\u5206\u89e3\u3059\u308b\u91cd\u8981\u306a\u50cd\u304d\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001AGU\u3067\u306f\u3053\u306e\u9175\u7d20\u304c\u5341\u5206\u306b\u6a5f\u80fd\u3057\u306a\u3044\u305f\u3081\u3001<strong>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\uff08Aspartylglucosamine\uff09<\/strong> \u3092\u542b\u3080\u7cd6\u9396\u6210\u5206\u304c\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u5185\u306b\u84c4\u7a4d\u3057\u3001\u7d30\u80de\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u6b21\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027<\/strong>\uff08Progressive neurodegeneration\uff09\uff1a\u8133\u306e\u7d30\u80de\u304c\u5c11\u3057\u305a\u3064\u58ca\u308c\u3066\u3044\u304d\u3001\u77e5\u7684\u80fd\u529b\u3084\u904b\u52d5\u80fd\u529b\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong>\uff08Intellectual disability\uff09\uff1a\u5e7c\u5c11\u671f\u304b\u3089\u5b66\u7fd2\u3084\u8a8d\u77e5\u6a5f\u80fd\u306b\u9045\u308c\u304c\u751f\u3058\u308b\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38<\/strong>\uff08Skeletal abnormalities\uff09\uff1a\u9aa8\u306e\u5909\u5f62\u3084\u6210\u9577\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u7d50\u5408\u7d44\u7e54\u306e\u904e\u6210\u9577<\/strong>\uff08Connective tissue overgrowth\uff09\uff1a\u76ae\u819a\u3084\u95a2\u7bc0\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b69\u884c\u7570\u5e38<\/strong>\uff08Gait disturbances\uff09\uff1a\u30d0\u30e9\u30f3\u30b9\u3092\u5d29\u3057\u3084\u3059\u304f\u306a\u308a\u3001\u6b69\u884c\u304c\u56f0\u96e3\u306b\u306a\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5bff\u547d\u306e\u77ed\u7e2e<\/strong>\uff08Premature death\uff09\uff1a\u5e73\u5747\u5bff\u547d\u306f\u4e00\u822c\u306e\u4eba\u3088\u308a\u3082\u77ed\u304f\u3001\u591a\u304f\u306e\u60a3\u8005\u304c50\u6b73\u4ee5\u524d\u306b\u4ea1\u304f\u306a\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p>AGU\u306f\u4e3b\u306b<strong>\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u7cfb<\/strong>\u306e\u4eba\u3005\u3067\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u4e16\u754c\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u975e\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u7cfb\u306e\u60a3\u8005\u3082\u5b58\u5728\u3057\u307e\u3059\u3002\u75c5\u6c17\u306e\u9032\u884c\u306f\u3086\u3063\u304f\u308a\u3067\u3001\u751f\u5f8c\u9593\u3082\u306a\u304f\u75c7\u72b6\u304c\u73fe\u308c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u77e5\u7684\u30fb\u8eab\u4f53\u7684\u306a\u80fd\u529b\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u3001<strong>\u9854\u7acb\u3061\u306e\u5909\u5316\uff08\u9854\u8c8c\u7c97\u96d1\u5316\uff09\u3001\u982d\u56f2\u306e\u5897\u5927\uff08\u5927\u982d\u75c7\uff09\u3001\u6210\u9577\u306e\u9045\u308c\u3001\u983b\u7e41\u306a\u611f\u67d3\u75c7\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u7cbe\u795e\u75c7\u72b6<\/strong> \u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u3001AGU\u3092\u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001<strong>\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u5bfe\u75c7\u7642\u6cd5<\/strong> \u306b\u3088\u3063\u3066\u3001\u75c7\u72b6\u3092\u7ba1\u7406\u3057\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u307e\u305f\u3001<strong>\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08ERT\uff09\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3001\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09<\/strong> \u306a\u3069\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>AGU\u306f\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u3067\u6700\u3082\u591a\u304f\u898b\u3089\u308c\u3001<strong>\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u4eba\u306e\u7d0450\u4eba\u306b1\u4eba\u304c\u4fdd\u56e0\u8005<\/strong>\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u3067\u3042\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u767a\u75c7\u7387\u306f<strong>10\u4e07\u4eba\u3042\u305f\u308a1.7\u301c5\u4eba<\/strong> \u3067\u3042\u308a\u30012016\u5e74\u306e\u6642\u70b9\u3067\u4e16\u754c\u4e2d\u306b<strong>200\u301c300\u4eba\u306e\u60a3\u8005<\/strong> \u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09<\/strong> \u3084\u305d\u306e\u4ed6\u306e\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3068\u75c7\u72b6\u304c\u91cd\u306a\u308b\u305f\u3081\u3001\u591a\u304f\u306e\u60a3\u8005\u304c\u8a3a\u65ad\u3055\u308c\u306a\u3044\u307e\u307e\u306b\u306a\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>AGU\u306f\u300c\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u907a\u4f1d\u75c5\uff08Finnish heritage disease\uff09\u300d\u306e\u4e00\u3064\u3067\u3059\u304c\u3001<strong>\u4e16\u754c\u4e2d\u306e\u3042\u3089\u3086\u308b\u4eba\u7a2e\u3084\u6c11\u65cf<\/strong> \u3067\u3082\u767a\u75c7\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306b<strong>30\u7a2e\u985e\u4ee5\u4e0a\u306eAGA\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong> \u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u4ee5\u5916\u306e\u5730\u57df\u306b\u306f\u72ec\u81ea\u306e\u5909\u7570\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>AGU\u306f\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060<strong>2\u3064\u306eAGA\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong>\uff08\u6f5c\u6027\u907a\u4f1d\uff09\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u3001<strong>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30cb\u30c0\u30fc\u30bc<\/strong>\uff08Aspartylglucosaminidase\uff09\u306e\u9175\u7d20\u6d3b\u6027\u304c\u4f4e\u4e0b\u307e\u305f\u306f\u6d88\u5931\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u3053\u306e\u9175\u7d20\u306f<strong>\u7cd6\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5206\u89e3<\/strong> \u306b\u95a2\u4e0e\u3057\u3001<strong>\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\uff08Asn\uff09<\/strong> \u3068<strong>N-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\uff08GlcNAc\uff09<\/strong> \u306e\u9593\u306e\u7d50\u5408\u3092\u5207\u65ad\u3059\u308b\u5f79\u5272\u3092\u6301\u3061\u307e\u3059\u3002\u3057\u304b\u3057\u3001AGU\u3067\u306f\u3053\u306e\u50cd\u304d\u304c\u963b\u5bb3\u3055\u308c\u3001<strong>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3<\/strong> \u306a\u3069\u306e\u7cd6\u9396\u6210\u5206\u304c\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u5185\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002\u3053\u306e\u7570\u5e38\u306a\u84c4\u7a4d\u304c\u7d30\u80de\u6a5f\u80fd\u3092\u59a8\u3052\u3001\u591a\u304f\u306e\u81d3\u5668\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u5909\u7570\u306e\u5f71\u97ff\u306f\u69d8\u3005\u3067\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u6d3b\u6027\u90e8\u4f4d\u306e\u5909\u7570\uff08Active site mutations\uff09<\/strong>\uff1a\u9175\u7d20\u306e\u50cd\u304d\u3092\u76f4\u63a5\u59a8\u3052\u308b\u3002<\/li>\n\n\n\n<li><strong>\u4e8c\u91cf\u4f53\u5f62\u6210\u306e\u969c\u5bb3\uff08Dimer interface mutations\uff09<\/strong>\uff1a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6b63\u5e38\u306a\u6298\u308a\u305f\u305f\u307f\uff08\u30d5\u30a9\u30fc\u30eb\u30c7\u30a3\u30f3\u30b0\uff09\u3092\u963b\u5bb3\u3057\u3001\u7570\u5e38\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7d30\u80de\u5185\u306b\u84c4\u7a4d\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5909\u7570\u306e\u91cd\u75c7\u5ea6\uff08Mild, moderate, severe\uff09<\/strong>\uff1a\u6b8b\u5b58\u9175\u7d20\u6d3b\u6027\u306e\u7a0b\u5ea6\u306b\u5fdc\u3058\u3066\u75c5\u6c17\u306e\u9032\u884c\u304c\u7570\u306a\u308b\u3002<\/li>\n<\/ol>\n\n\n\n<div style=\"height:25px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n<h3 class=\"hidden-heading\"><\/h3>\n\n\n\n<p>AGU\u306e\u75c7\u72b6\u306f\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u307e\u3059\u3002\u5927\u304d\u304f<strong>3\u3064\u306e\u6bb5\u968e<\/strong> \u306b\u5206\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u2460 \u5e7c\u5c11\u671f\uff080\u301c13\u6b73\uff09<\/strong><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5927\u982d\u75c7\uff08\u982d\u306e\u30b5\u30a4\u30ba\u304c\u5927\u304d\u304f\u306a\u308b\uff09<\/li>\n\n\n\n<li>\u547c\u5438\u5668\u611f\u67d3\u75c7\u3084\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059<\/li>\n\n\n\n<li>\u8a00\u8a9e\u30fb\u904b\u52d5\u767a\u9054\u306e\u9045\u308c<\/li>\n\n\n\n<li>\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/li>\n\n\n\n<li>\u591a\u52d5\u50be\u5411\u307e\u305f\u306f\u304a\u3068\u306a\u3057\u3044\u6027\u683c<\/li>\n\n\n\n<li>\u9854\u7acb\u3061\u304c\u7c97\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u9f20\u5f84\u30d8\u30eb\u30cb\u30a2\u3084\u8179\u90e8\u30d8\u30eb\u30cb\u30a2<\/li>\n\n\n\n<li>\u904b\u52d5\u306e\u304e\u3053\u3061\u306a\u3055\u3084\u6b69\u884c\u7570\u5e38<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u2461 \u601d\u6625\u671f\u30fb\u82e5\u5e74\u6210\u4eba\u671f\uff0814\u301c28\u6b73\uff09<\/strong><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u306e\u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b\u3068\u884c\u52d5\u554f\u984c<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306e\u7279\u5fb4\uff08\u5bfe\u4eba\u95a2\u4fc2\u306e\u56f0\u96e3\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u969c\u5bb3\uff09<\/li>\n\n\n\n<li>\u591c\u9593\u306b\u8d77\u3053\u308b<strong>\u524d\u982d\u8449\u3066\u3093\u304b\u3093<\/strong><\/li>\n\n\n\n<li>\u7cbe\u795e\u75c7\u72b6\uff08\u60c5\u7dd2\u4e0d\u5b89\u5b9a\u3001\u653b\u6483\u6027\uff09<\/li>\n\n\n\n<li>\u7761\u7720\u969c\u5bb3\uff08\u7761\u7720\u5206\u65ad\uff09<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u2462 \u6210\u4eba\u671f\u4ee5\u964d\uff0829\u6b73\u4ee5\u4e0a\uff09<\/strong><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u30fb\u8eab\u4f53\u6a5f\u80fd\u306e\u6025\u6fc0\u306a\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08IQ &lt; 35\uff09<\/li>\n\n\n\n<li>\u65e5\u5e38\u751f\u6d3b\u306e\u81ea\u7acb\u304c\u56f0\u96e3\u306b<\/li>\n\n\n\n<li>\u9aa8\u683c\u306e\u5909\u5f62\uff08\u808b\u9aa8\u304c\u539a\u304f\u3001\u9577\u9aa8\u304c\u7d30\u304f\u306a\u308b\u3001\u810a\u690e\u306e\u5909\u5f62\uff09<\/li>\n\n\n\n<li>\u95a2\u7bc0\u708e<\/li>\n\n\n\n<li><strong>\u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u7b4b\u8089\u306e\u7570\u5e38\u306a\u53ce\u7e2e\uff09<\/strong> \u306a\u3069\u304c\u51fa\u73fe\u3057\u3001\u6700\u7d42\u7684\u306b\u306f50\u6b73\u524d\u5f8c\u3067\u6b7b\u4ea1\u3059\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n<h3 class=\"hidden-heading\"><\/h3>\n\n\n\n<p>AGU\u306e\u8a3a\u65ad\u306f\u3001<strong>\u751f\u5316\u5b66\u7684\u691c\u67fb<\/strong>\uff08\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u3084\u5c3f\u691c\u67fb\uff09\u3001<strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\u3001<strong>\u753b\u50cf\u691c\u67fb<\/strong> \u306a\u3069\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u2460 \u751f\u5316\u5b66\u7684\u691c\u67fb\uff08Biochemical Testing\uff09<\/strong><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c3f\u30aa\u30ea\u30b4\u7cd6\u5206\u6790\uff08Urinary oligosaccharide screening\uff09<\/strong>\uff1a\u5c3f\u4e2d\u306b<strong>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\uff08Aspartylglucosamine\uff09<\/strong> \u304c\u7570\u5e38\u306b\u84c4\u7a4d\u3057\u3066\u3044\u308b\u304b\u3092\u8abf\u3079\u307e\u3059\u3002\u3053\u308c\u306fAGU\u306b\u7279\u5fb4\u7684\u306a\u30de\u30fc\u30ab\u30fc\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\uff08Enzyme activity assay\uff09<\/strong>\uff1a\u8840\u6db2\uff08\u8840\u6e05\uff09\u3001\u767d\u8840\u7403\u3001\u307e\u305f\u306f\u76ae\u819a\u306e\u7dda\u7dad\u82bd\u7d30\u80de\u3092\u7528\u3044\u3066\u3001<strong>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30cb\u30c0\u30fc\u30bc\uff08Aspartylglucosaminidase, AGA\uff09<\/strong> \u306e\u6d3b\u6027\u3092\u6e2c\u5b9a\u3057\u307e\u3059\u3002\u4f4e\u3044\u307e\u305f\u306f\u6b20\u640d\u3057\u3066\u3044\u308b\u5834\u5408\u3001AGU\u3068\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08Prenatal diagnosis\uff09<\/strong>\uff1a\u7f8a\u6c34\u3084\u7d68\u6bdb\uff08\u80ce\u76e4\u7d44\u7e54\uff09\u306e\u7d30\u80de\u3067\u9175\u7d20\u6d3b\u6027\u3092\u6e2c\u5b9a\u3057\u3001\u80ce\u5150\u304cAGU\u3092\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u2461 \u907a\u4f1d\u5b50\u691c\u67fb\uff08Genetic Testing\uff09<\/strong><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>AGA\u907a\u4f1d\u5b50\u306e\u5869\u57fa\u914d\u5217\u89e3\u6790\uff08AGA gene sequencing\uff09<\/strong>\uff1a\u30b5\u30f3\u30ac\u30fc\u6cd5\u3084\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08Next-Generation Sequencing, NGS\uff09\u3092\u7528\u3044\u3066\u3001<strong>AGA\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong> \u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u89e3\u6790\uff08Chromosomal microarray analysis\uff09<\/strong>\uff1a\u5927\u304d\u306a\u6b20\u5931\u5909\u7570\u304c\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08Whole Exome Sequencing, WES\uff09<\/strong>\uff1aAGU\u304c\u7591\u308f\u308c\u308b\u304c\u7279\u5b9a\u306e\u5909\u7570\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u306b\u3001\u907a\u4f1d\u5b50\u306e\u5e83\u7bc4\u306a\u89e3\u6790\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u2462 \u753b\u50cf\u8a3a\u65ad\uff08Neuroimaging &amp; Histopathology\uff09<\/strong><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133MRI\uff08Brain MRI\uff09<\/strong>\uff1a\u9032\u884c\u6027\u306e<strong>\u5927\u8133\u76ae\u8cea\u306e\u840e\u7e2e<\/strong>\uff08cortical atrophy\uff09\u304c\u898b\u3089\u308c\u3001AGU\u7279\u6709\u306e\u5909\u5316\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8X\u7dda\u691c\u67fb\uff08Bone X-rays\uff09<\/strong>\uff1a<strong>\u982d\u84cb\u9aa8\u306e\u80a5\u539a\u3001\u808b\u9aa8\u306e\u5909\u5f62\u3001\u9577\u9aa8\u306e\u7570\u5e38<\/strong> \u306a\u3069\u306e\u9aa8\u683c\u7570\u5e38\u3092\u691c\u51fa\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7d44\u7e54\u5b66\u7684\u691c\u67fb\uff08Lysosomal vacuolation in tissue\uff09<\/strong>\uff1a\u9855\u5fae\u93e1\u3067\u7d44\u7e54\u3092\u89b3\u5bdf\u3059\u308b\u3068\u3001\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u5185\u306b<strong>\u7a7a\u80de\uff08vacuolation\uff09<\/strong> \u3092\u6301\u3064\u7570\u5e38\u7d30\u80de\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n<h3 class=\"hidden-heading\"><\/h3>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001AGU\u3092<strong>\u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u6cd5\uff08\u6cbb\u7652\u7684\u6cbb\u7642\uff09<\/strong> \u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001<strong>\u5bfe\u75c7\u7642\u6cd5\uff08\u75c7\u72b6\u3092\u548c\u3089\u3052\u308b\u6cbb\u7642\uff09<\/strong> \u3084\u3001\u73fe\u5728\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u308b<strong>\u5b9f\u9a13\u7684\u6cbb\u7642<\/strong> \u306b\u3088\u3063\u3066\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u2460 \u5bfe\u75c7\u7642\u6cd5\uff08Supportive Therapies\uff09<\/strong><\/h4>\n\n\n\n<p>AGU\u306e\u9032\u884c\u3092\u6b62\u3081\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u304c\u3001\u4ee5\u4e0b\u306e\u6cbb\u7642\u3067\u75c7\u72b6\u3092\u7ba1\u7406\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u7ba1\u7406<\/strong>\uff08Seizure management\uff09\uff1a\u6297\u3066\u3093\u304b\u3093\u85ac\uff08AEDs\uff09\u3092\u4f7f\u7528\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u306e\u30b5\u30dd\u30fc\u30c8<\/strong>\uff08Behavioral support\uff09\uff1aADHD\u306e\u6cbb\u7642\u85ac\u3084\u7cbe\u795e\u79d1\u6cbb\u7642\u3092\u884c\u3044\u3001\u60c5\u7dd2\u4e0d\u5b89\u5b9a\u3084\u653b\u6483\u6027\u3092\u8efd\u6e1b\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff08Speech, occupational, and physical therapy\uff09\uff1a\u8a00\u8a9e\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u7406\u5b66\u7642\u6cd5\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u751f\u6d3b\u6a5f\u80fd\u3092\u7dad\u6301\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2\u3068\u9069\u5fdc\u5b66\u7fd2\u30d7\u30ed\u30b0\u30e9\u30e0<\/strong>\uff08Special education &amp; adaptive learning plans\uff09\uff1a\u5b66\u7fd2\u74b0\u5883\u3092\u6700\u9069\u5316\u3057\u3001\u60a3\u8005\u306e\u767a\u9054\u3092\u4fc3\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong>\uff08Orthopedic interventions\uff09\uff1a\u9aa8\u683c\u306e\u7570\u5e38\u306b\u5bfe\u3057\u3066\u5916\u79d1\u7684\u624b\u8853\u3092\u884c\u3046\u3002<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u75c7\u3084\u95a2\u7bc0\u708e\u306e\u7ba1\u7406<\/strong>\uff08Management of infections and arthritis\uff09\uff1a\u514d\u75ab\u7cfb\u306e\u30b5\u30dd\u30fc\u30c8\u3084\u6297\u708e\u75c7\u85ac\u306e\u4f7f\u7528\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u30b5\u30dd\u30fc\u30c8\u3068\u7761\u7720\u6539\u5584<\/strong>\uff08Nutritional support and sleep interventions\uff09\uff1a\u56a5\u4e0b\u969c\u5bb3\u3084\u98df\u4e8b\u306e\u554f\u984c\u306b\u5bfe\u5fdc\u3057\u3001\u7761\u7720\u30ea\u30ba\u30e0\u3092\u6574\u3048\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u2461 \u5b9f\u9a13\u7684\u6cbb\u7642\uff08Experimental Treatments\uff09<\/strong><\/h4>\n\n\n\n<p>\u73fe\u5728\u3001\u4ee5\u4e0b\u306e\u6cbb\u7642\u6cd5\u304c\u7814\u7a76\u6bb5\u968e\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08Enzyme Replacement Therapy, ERT\uff09<\/strong>\uff1a\u4f53\u5916\u3067\u4f5c\u3089\u308c\u305f\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30cb\u30c0\u30fc\u30bc\u3092\u6295\u4e0e\u3057\u3001\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u5185\u306e<strong>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\u84c4\u7a4d\u3092\u6e1b\u3089\u3059<\/strong> \u3053\u3068\u3092\u76ee\u6307\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09<\/strong>\uff1a\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u3092\u7528\u3044\u3066\u3001\u6a5f\u80fd\u3059\u308b<strong>AGA\u907a\u4f1d\u5b50\u3092\u4e2d\u67a2\u795e\u7d4c\u7cfb\uff08CNS\uff09\u306b\u5c0e\u5165<\/strong> \u3059\u308b\u6280\u8853\u3002<\/li>\n\n\n\n<li><strong>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08Hematopoietic Stem Cell Transplantation, HSCT\uff09<\/strong>\uff1a\u8840\u6db2\u7d30\u80de\u306e\u79fb\u690d\u306b\u3088\u308a\u3001\u6b63\u5e38\u306a\u9175\u7d20\u3092\u6301\u3064\u7d30\u80de\u3092\u60a3\u8005\u306e\u4f53\u5185\u3067\u5897\u3084\u3057\u3001\u9175\u7d20\u6d3b\u6027\u3092\u56de\u5fa9\u3055\u305b\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3059\u308b\u3002\u305f\u3060\u3057\u3001\u52b9\u679c\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u65e9\u671f\u8a3a\u65ad<\/strong> \u306b\u3088\u3063\u3066\u3001\u3053\u308c\u3089\u306e\u6cbb\u7642\u3092\u9069\u5207\u306a\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u958b\u59cb\u3067\u304d\u308c\u3070\u3001\u60a3\u8005\u306e\u5065\u5eb7\u7ba1\u7406\u306e\u6700\u9069\u5316\u304c\u53ef\u80fd\u306b\u306a\u308a\u3001<strong>\u5bb6\u65cf\u306e\u8ca0\u62c5\u3092\u8efd\u6e1b<\/strong> \u3059\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>AGU\u306f<strong>\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3<\/strong> \u3067\u3042\u308a\u3001\u6642\u9593\u306e\u7d4c\u904e\u3068\u3068\u3082\u306b\u77e5\u7684\u30fb\u8eab\u4f53\u7684\u306a\u80fd\u529b\u304c\u4f4e\u4e0b\u3057\u3066\u3044\u304d\u307e\u3059\u3002<strong>\u5bff\u547d\u306f\u4e00\u822c\u3088\u308a\u3082\u77ed\u3044<\/strong> \u3067\u3059\u304c\u3001\u9069\u5207\u306a\u533b\u7642\u30b1\u30a2\u306b\u3088\u3063\u3066\u3001\u3088\u308a\u9577\u304f\u751f\u6d3b\u306e\u8cea\u3092\u7dad\u6301\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u306eAGU\u60a3\u8005\u306e\u5e73\u5747\u5bff\u547d<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7537\u6027\uff1a\u7d0445\u6b73<\/li>\n\n\n\n<li>\u5973\u6027\uff1a\u7d0450\u6b73<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6700\u3082\u4e00\u822c\u7684\u306a\u6b7b\u56e0<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u7d30\u83cc\u611f\u67d3\u75c7<\/strong>\uff08\u7279\u306b\u80ba\u708e\u306a\u3069\u306e\u547c\u5438\u5668\u611f\u67d3\u75c7\uff09\u304c\u6700\u3082\u591a\u3044\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u75c7\u72b6\u306e\u60aa\u5316<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u9f62\u306b\u306a\u308b\u3068<strong>\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong>\uff08IQ 35\u672a\u6e80\uff09\u304c\u9032\u884c\u3057\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u81ea\u7acb\u304c\u56f0\u96e3\u306b\u3002<\/li>\n\n\n\n<li>\u672b\u671f\u306b\u306f<strong>\u30b8\u30b9\u30c8\u30cb\u30a2\uff08Dystonia, \u7b4b\u8089\u306e\u7570\u5e38\u306a\u53ce\u7e2e\uff09<\/strong> \u3084\u9577\u6642\u9593\u52d5\u3051\u306a\u3044\u72b6\u614b\u304c\u7d9a\u304f\u3053\u3068\u304c\u3042\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u8fd1\u5e74\u3001<strong>\u907a\u4f1d\u5b50\u8a3a\u65ad\u6280\u8853\u306e\u9032\u6b69<\/strong> \u306b\u3088\u308a\u3001\u3088\u308a\u65e9\u671f\u306bAGU\u3092\u767a\u898b\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u4ee5\u5916\u306e\u56fd\u3067\u3082\u9069\u5207\u306a\u8a3a\u65ad\u304c\u884c\u308f\u308c\u308b\u3088\u3046\u306b\u306a\u308c\u3070\u3001\u3088\u308a\u826f\u3044\u7ba1\u7406\u3068\u6cbb\u7642\u306e\u63d0\u4f9b\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306f\u6cbb\u7642\u6cd5\u304c\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001<strong>\u65b0\u3057\u3044\u6cbb\u7642\u7814\u7a76\u304c\u9032\u3093\u3067\u304a\u308a\u3001\u5c06\u6765\u7684\u306b\u3088\u308a\u826f\u3044\u4ecb\u5165\u65b9\u6cd5\u304c\u78ba\u7acb\u3055\u308c\u308b\u53ef\u80fd\u6027<\/strong> \u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u30b1\u30a2\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u6700\u5927\u9650\u306b\u7dad\u6301\u3059\u308b\u3053\u3068\u304c\u76ee\u6307\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u7f79\u60a3\u8005\u5b50\u4f9b\u306e\u5199\u771f\uff5cPictures of affected children<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1177\/0883073820980904\">Goodspeed, K., Feng, C., Laine, M., &amp; Lund, T. C. (2021). Aspartylglucosaminuria: Clinical presentation and potential therapies. <em>Journal of Child Neurology<\/em>, <em>36<\/em>(5), 403\u2013414. <\/a><\/li>\n<\/ul>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1093\/hmg\/10.9.983\">Saarela, J., Laine, M., Oinonen, C., von Schantz, C., Jalanko, A., Rouvinen, J., &amp; Peltonen, L. (2001). Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. <em>Human molecular genetics<\/em>, <em>10<\/em>(9), 983\u2013995. https:\/\/doi.org\/10.1093\/hmg\/10.9.983<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-016-0544-6\">Arvio, M., Mononen, I. Aspartylglycosaminuria: a review. <em>Orphanet J Rare Dis<\/em> <strong>11<\/strong>, 162 (2016). https:\/\/doi.org\/10.1186\/s13023-016-0544-6<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1177\/0883073820980904\">Goodspeed, K., Feng, C., Laine, M., &amp; Lund, T. C. (2021). Aspartylglucosaminuria: Clinical presentation and potential therapies. <em>Journal of Child Neurology<\/em>, <em>36<\/em>(5), 403\u2013414. https:\/\/doi.org\/10.1177\/0883073820980904<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/978-3-319-66816-1_1871-1\">Senarathne, U.D., Indika, NL.R., Stepien, K.M. (2024). Aspartylglucosaminuria. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https:\/\/doi.org\/10.1007\/978-3-319-66816-1_1871-1<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":30,"template":"page_gd.php","class_list":["post-33580","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\/33580","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":14,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33580\/revisions"}],"predecessor-version":[{"id":128076,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33580\/revisions\/128076"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33580"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}