{"id":45126,"date":"2022-10-21T12:59:16","date_gmt":"2022-10-21T03:59:16","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=45126"},"modified":"2026-04-28T13:18:44","modified_gmt":"2026-04-28T04:18:44","slug":"glycogen-storage-disease-1b","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-1b\/","title":{"rendered":"\u7cd6\u539f\u75c5\u2160\u578b(Ib)"},"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>\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u84c4\u7a4d\u75c71B\u578b\uff08GSD1B\uff09\u306f\u3001SLC37A4\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u306a\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u809d\u81d3\u3084\u814e\u81d3\u306e\u7570\u5e38\u3001\u4f4e\u8840\u7cd6\u3001\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u3001\u708e\u75c7\u6027\u8178\u75be\u60a3\uff08IBD\uff09\u306a\u3069\u3001\u591a\u69d8\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001GSD1B\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6700\u65b0\u306e\u6cbb\u7642\u6226\u7565\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\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>SLC37A4\uff5cGlycogen Storage Disease, Type 1B<\/p>\n\n\n\n<p><sup>GSD1B; <\/sup><sup>Glucose-6-Phosphate Transport Defect<a href=\"https:\/\/omim.org\/entry\/232220\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a>; Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib; G6P Translocase Deficiency <\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u84c4\u7a4d\u75c71B\u578b\uff08Glycogen Storage Disease Type 1B, GSD1B\uff09\u306f\u3001<em>SLC37A4<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u306e\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30b0\u30eb\u30b3\u30fc\u30b9-6-\u30ea\u30f3\u9178\u30c8\u30e9\u30f3\u30b9\u30ed\u30ab\u30fc\u30bc\uff08glucose-6-phosphate translocase, G6PT\uff09\u3068\u3044\u3046\u9175\u7d20\u3092\u4f5c\u308b\u50cd\u304d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002G6PT\u306f\u3001\u4f53\u5185\u306e\u7cd6\u4ee3\u8b1d\uff08\u30b0\u30eb\u30b3\u30fc\u30b9\u306e\u6052\u5e38\u6027\uff09\u3092\u7dad\u6301\u3059\u308b\u3046\u3048\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3001\u7d30\u80de\u5185\u3067\u30b0\u30eb\u30b3\u30fc\u30b9-6-\u30ea\u30f3\u9178\uff08glucose-6-phosphate, G6P\uff09\u3092\u5c0f\u80de\u4f53\uff08endoplasmic reticulum\uff09\u5185\u306b\u904b\u3076\u50cd\u304d\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306eG6PT\u304c\u6a5f\u80fd\u3057\u306a\u3044\u3068\u3001\u30b0\u30eb\u30b3\u30fc\u30b9\u306e\u653e\u51fa\u304c\u6b63\u5e38\u306b\u884c\u308f\u308c\u305a\u3001\u809d\u81d3\u3084\u814e\u81d3\u3001\u8178\u7ba1\u306b\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u3084\u4ee3\u8b1d\u526f\u7523\u7269\u304c\u904e\u5270\u306b\u84c4\u7a4d\u3057\u3001\u6df1\u523b\u306a\u4ee3\u8b1d\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>GSD1B\u306e\u4e3b\u306a\u75c7\u72b6\u306b\u306f\u3001\u809d\u81d3\u306e\u816b\u5927\uff08\u809d\u816b\u5927\uff09\u3001\u7a7a\u8179\u6642\u306e\u4f4e\u8840\u7cd6\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff08\u4e73\u9178\u306e\u84c4\u7a4d\u306b\u3088\u308b\u8840\u6db2\u306e\u9178\u6027\u5316\uff09\u3001\u9ad8\u8102\u8840\u75c7\u3001\u9ad8\u5c3f\u9178\u8840\u75c7\u3001\u305d\u3057\u3066\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\uff08neutropenia\uff09\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u7279\u306b\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u304c\u3042\u308b\u305f\u3081\u3001\u611f\u67d3\u75c7\u306b\u304b\u304b\u308a\u3084\u3059\u304f\u306a\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u708e\u75c7\u6027\u8178\u75be\u60a3\uff08inflammatory bowel disease, IBD\uff09\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u3082\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u75c7\u72b6\u306f\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u306b\u5927\u304d\u304f\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>GSD1B\u306f\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u65b0\u751f\u5150\u7d0450\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u75c7\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u84c4\u7a4d\u75c71\u578b\uff08GSD1\uff09\u306e\u3046\u3061\u7d0420%\u304cGSD1B\u306b\u5206\u985e\u3055\u308c\u3001\u6b8b\u308a\u306e\u7d0480%\u306fG6PC\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308bGSD1A\u578b\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u4e16\u754c\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u5b9a\u306e\u96c6\u56e3\u3067\u306f\u767a\u75c7\u983b\u5ea6\u304c\u6bd4\u8f03\u7684\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u4e2d\u56fd\u3001\u65e5\u672c\u3001\u97d3\u56fd\u3001\u30a4\u30e9\u30f3\u3001\u30bb\u30eb\u30d3\u30a2\u306e\u4eba\u3005\u306e\u9593\u3067\u6bd4\u8f03\u7684\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u672c\u3067\u306f\u3001<em>SLC37A4<\/em>\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306e\u4e2d\u3067\u3082\u7279\u306bc.352T&gt;C\uff08p.Trp118Arg\uff09\u3068\u3044\u3046\u5909\u7570\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3042\u308a\u3001\u65e5\u672c\u4eba\u60a3\u8005\u306e37\uff5e50%\u306b\u3053\u306e\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001<em>SLC37A4<\/em>\u907a\u4f1d\u5b50\u304c\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u3066\u4ee5\u6765\u3001100\u7a2e\u985e\u4ee5\u4e0a\u306e\u75c5\u7684\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>GSD1B\u306f\u3001\u7b2c11\u67d3\u8272\u4f53\u306e11q23.3\u306b\u4f4d\u7f6e\u3059\u308b SLC37A4\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u306b\u75c5\u7684\u5909\u7570\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u30b3\u30fc\u30c9\u3059\u308bG6PT\u306f\u3001\u7d30\u80de\u8cea\u5185\u306e\u30b0\u30eb\u30b3\u30fc\u30b9-6-\u30ea\u30f3\u9178\u3092\u5c0f\u80de\u4f53\u306b\u904b\u3076\u305f\u3081\u306b\u5fc5\u8981\u306a\u819c\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3059\u3002\u5c0f\u80de\u4f53\u5185\u306b\u904b\u3070\u308c\u305fG6P\u306f\u3001\u30b0\u30eb\u30b3\u30fc\u30b9-6-\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\uff08glucose-6-phosphatase, G6Pase\uff09\u3068\u3044\u3046\u9175\u7d20\u306b\u3088\u3063\u3066\u52a0\u6c34\u5206\u89e3\u3055\u308c\u3001\u6700\u7d42\u7684\u306b\u8840\u6db2\u4e2d\u306b\u653e\u51fa\u3055\u308c\u308b\u5f62\u306b\u306a\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001G6PT\u306e\u6a5f\u80fd\u304c\u6b20\u5982\u3059\u308b\u3068\u3001\u30b0\u30eb\u30b3\u30fc\u30b9\u306e\u4f9b\u7d66\u304c\u6ede\u308a\u3001\u904e\u5270\u306a\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u304c\u84c4\u7a4d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001G6PT\u306f\u767d\u8840\u7403\u306e\u4e00\u7a2e\u3067\u3042\u308b\u597d\u4e2d\u7403\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306b\u3082\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6b20\u4e4f\u306f\u597d\u4e2d\u7403\u306e\u6a5f\u80fd\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u514d\u75ab\u7cfb\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u305b\u305a\u3001\u611f\u67d3\u75c7\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u3001\u6162\u6027\u7684\u306a\u708e\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u539f\u56e0\u306b\u3082\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>GSD1B\u306e\u75c7\u72b6\u306f\u3001\u751f\u5f8c\u6570\u304b\u6708\u4ee5\u5185\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30fb<strong>\u4ee3\u8b1d\u7570\u5e38<\/strong>\uff1a\u7a7a\u8179\u6642\u306e\u4f4e\u8840\u7cd6\u304c\u91cd\u75c7\u5316\u3057\u3084\u3059\u304f\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u9ad8\u8102\u8840\u75c7\u3001\u9ad8\u5c3f\u9178\u8840\u75c7\u304c\u898b\u3089\u308c\u307e\u3059\u3002<br>\u30fb<strong>\u809d\u81d3\u30fb\u814e\u81d3\u306e\u7570\u5e38<\/strong>\uff1a\u809d\u81d3\u3084\u814e\u81d3\u304c\u80a5\u5927\u3057\uff08\u809d\u816b\u5927\u30fb\u814e\u816b\u5927\uff09\u3001\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<br>\u30fb<strong>\u6210\u9577\u969c\u5bb3<\/strong>\uff1a\u767a\u80b2\u306e\u9045\u308c\u3084\u4f4e\u8eab\u9577\u304c\u307f\u3089\u308c\u307e\u3059\u3002<br>\u30fb<strong>\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u3068\u611f\u67d3\u75c7<\/strong>\uff1a\u6162\u6027\u7684\u306a\u597d\u4e2d\u7403\u6e1b\u5c11\u306b\u3088\u308a\u3001\u983b\u7e41\u306b\u7d30\u83cc\u611f\u67d3\u75c7\u3092\u767a\u75c7\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u7279\u306b\u3001\u4e0a\u6c17\u9053\u611f\u67d3\u75c7\u3084\u76ae\u819a\u611f\u67d3\u75c7\u304c\u591a\u304f\u307f\u3089\u308c\u307e\u3059\u3002<br>\u30fb<strong>\u6d88\u5316\u5668\u7cfb\u306e\u554f\u984c<\/strong>\uff1a\u708e\u75c7\u6027\u8178\u75be\u60a3\uff08IBD\uff09\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6162\u6027\u7684\u306a\u4e0b\u75e2\u3084\u8179\u75db\u3001\u8178\u7ba1\u306e\u72ed\u7a84\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<br>\u30fb<strong>\u53e3\u8154\u306e\u5065\u5eb7\u554f\u984c<\/strong>\uff1a\u6b6f\u8089\u708e\u3001\u6b6f\u5468\u75c5\u3001\u53e3\u5185\u708e\u304c\u983b\u7e41\u306b\u767a\u751f\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>GSD1B\u306e\u8a3a\u65ad\u306b\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u3001\u8840\u6db2\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306a\u3069\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8840\u6db2\u691c\u67fb\u3067\u306f\u3001\u4f4e\u8840\u7cd6\u3001\u4e73\u9178\u306e\u4e0a\u6607\u3001\u9ad8\u8102\u8840\u75c7\u3001\u9ad8\u5c3f\u9178\u8840\u75c7\u3001\u304a\u3088\u3073\u597d\u4e2d\u7403\u6e1b\u5c11\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\uff08NGS\uff09\u3084\u30b5\u30f3\u30ac\u30fc\u6cd5\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308a\u3001<em>SLC37A4<\/em>\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002\u307e\u305f\u3001\u809d\u751f\u691c\u3092\u884c\u3046\u3068\u3001\u809d\u7d30\u80de\u5185\u306e\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u306e\u904e\u5270\u84c4\u7a4d\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6d88\u5316\u7ba1\u306e\u554f\u984c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306b\u306f\u3001\u5185\u8996\u93e1\u691c\u67fb\uff08\u5927\u8178\u5185\u8996\u93e1\u306a\u3069\uff09\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>GSD1B\u306e\u6cbb\u7642\u306f\u3001\u4e3b\u306b\u4ee3\u8b1d\u306e\u5b89\u5b9a\u5316\u3068\u5408\u4f75\u75c7\u306e\u4e88\u9632\u3092\u76ee\u7684\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u983b\u56de\u306e\u98df\u4e8b\u6442\u53d6\u3084\u30c8\u30a6\u30e2\u30ed\u30b3\u30b7\u30c7\u30f3\u30d7\u30f3\u306e\u88dc\u7d66\u306b\u3088\u3063\u3066\u3001\u4f4e\u8840\u7cd6\u3092\u9632\u304e\u307e\u3059\u3002\u307e\u305f\u3001\u9ad8\u8102\u8840\u75c7\u3084\u9ad8\u5c3f\u9178\u8840\u75c7\u3092\u7ba1\u7406\u3059\u308b\u305f\u3081\u306b\u98df\u4e8b\u5236\u9650\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u306b\u5bfe\u3057\u3066\u306f\u3001\u9846\u7c92\u7403\u30b3\u30ed\u30cb\u30fc\u523a\u6fc0\u56e0\u5b50\uff08G-CSF\uff09\u3092\u6295\u4e0e\u3059\u308b\u3053\u3068\u3067\u597d\u4e2d\u7403\u306e\u6570\u3092\u5897\u3084\u3057\u3001\u611f\u67d3\u75c7\u306e\u30ea\u30b9\u30af\u3092\u8efd\u6e1b\u3057\u307e\u3059\u3002\u6700\u8fd1\u3067\u306f\u3001SGLT2\u963b\u5bb3\u85ac\u3067\u3042\u308b\u30a8\u30f3\u30d1\u30b0\u30ea\u30d5\u30ed\u30b8\u30f3\u304c\u3001\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u3084IBD\u306e\u6539\u5584\u306b\u6709\u52b9\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u9069\u5207\u306a\u6cbb\u7642\u3068\u7ba1\u7406\u3092\u884c\u3048\u3070\u3001GSD1B\u306e\u60a3\u8005\u306f\u6210\u4eba\u307e\u3067\u751f\u5b58\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u6162\u6027\u7684\u306a\u809d\u969c\u5bb3\u3084\u814e\u6a5f\u80fd\u4f4e\u4e0b\u3001IBD\u306a\u3069\u306e\u5408\u4f75\u75c7\u304c\u9577\u671f\u7684\u306b\u751f\u6d3b\u306e\u8cea\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u65b0\u305f\u306a\u85ac\u5264\u958b\u767a\u304c\u9032\u3080\u3053\u3068\u3067\u3001\u5c06\u6765\u7684\u306b\u306f\u3088\u308a\u826f\u3044\u6cbb\u7642\u6cd5\u304c\u78ba\u7acb\u3055\u308c\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\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\/10.1177\/03000605231216633\">Wang, Z., Zhao, R., Jia, X., Li, X., Ma, L., &amp; Fu, H. (2023). Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review. <em>Journal of International Medical Research<\/em>, <em>51<\/em>(12), 03000605231216633. https:\/\/doi.org\/10.1177\/03000605231216633<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41598-024-75524-9\">Tanigaki, K., Matsumura, R., Sasaki, N. <em>et al.<\/em> <em>SLC37A4<\/em>, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via <em>JAM1<\/em> expression. <em>Sci Rep<\/em> <strong>14<\/strong>, 24797 (2024). https:\/\/doi.org\/10.1038\/s41598-024-75524-9<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1177\/0300060519867819\">Zhang, Y., Sun, H., &amp; Wan, N. (2019). Mutation analysis of <em>SLC37A4<\/em> in a patient with glycogen storage disease-type Ib. <em>Journal of International Medical Research<\/em>, <em>47<\/em>(12), 5996\u20136003. https:\/\/doi.org\/10.1177\/0300060519867819<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":2,"template":"page_gd.php","class_list":["post-45126","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\/45126","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":12,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/45126\/revisions"}],"predecessor-version":[{"id":127730,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/45126\/revisions\/127730"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=45126"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}