{"id":60294,"date":"2023-08-25T10:12:02","date_gmt":"2023-08-25T01:12:02","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60294"},"modified":"2026-05-08T13:27:54","modified_gmt":"2026-05-08T04:27:54","slug":"fascial-glycogenosis","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fascial-glycogenosis\/","title":{"rendered":"\u7b4b\u578b\u7cd6\u539f\u75c5"},"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\u8caf\u8535\u75c5IV\u578b\uff08GSD IV\uff09\u306f\u3001GBE1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u7570\u5e38\u306a\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u306e\u84c4\u7a4d\u304c\u809d\u81d3\u3001\u7b4b\u8089\u3001\u795e\u7d4c\u7cfb\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u75c5\u578b\u306b\u3088\u3063\u3066\u9032\u884c\u6027\u809d\u75be\u60a3\u3084\u795e\u7d4c\u7b4b\u75c7\u72b6\u3092\u4f34\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001GSD IV\u306e\u75c5\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3001\u6700\u65b0\u306e\u7814\u7a76\u77e5\u898b\u3082\u7d39\u4ecb\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>GBE1\uff5cGlycogen Storage Disease, Type 4<\/p>\n\n\n\n<p><sup>Glycogen Storage Disease \u2163; Andersen Disease; Amylopectinosis; Glycogen Branching Enzyme Deficiency; Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form<\/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\u8caf\u8535\u75c5IV\u578b\uff08Glycogen Storage Disease Type IV, GSD IV\uff09\u306f\u3001GBE1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u4ee3\u8b1d\u75be\u60a3\u3067\u3042\u308b\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u5206\u679d\u9175\u7d20\uff08glycogen branching enzyme, GBE\uff09\u306e\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308a\u3001\u7570\u5e38\u306a\u30a2\u30df\u30ed\u30da\u30af\u30c1\u30f3\u69d8\u591a\u7cd6\u304c\u809d\u81d3\u3001\u7b4b\u8089\u3001\u5fc3\u81d3\u3001\u795e\u7d4c\u7cfb\u306a\u3069\u306b\u84c4\u7a4d\u3059\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3042\u308b\u3002GSD IV\u306f\u81e8\u5e8a\u7684\u306b\u591a\u69d8\u306a\u8868\u73fe\u578b\u3092\u793a\u3057\u3001\u9032\u884c\u6027\u809d\u75be\u60a3\u578b\uff08\u30af\u30e9\u30b7\u30c3\u30af\u578b\uff09\u3001\u975e\u9032\u884c\u6027\u809d\u75be\u60a3\u578b\u3001\u5148\u5929\u6027\u795e\u7d4c\u7b4b\u578b\u3001\u5c0f\u5150\u767a\u75c7\u578b\u795e\u7d4c\u7b4b\u578b\u3001\u6210\u4eba\u30dd\u30ea\u30b0\u30eb\u30b3\u30b5\u30f3\u4f53\u75c5\uff08APBD\uff09\u306a\u3069\u306b\u5206\u985e\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u4e3b\u306b\u4e73\u5150\u671f\u65e9\u671f\u306b\u767a\u75c7\u3057\u3001\u809d\u816b\u5927\u3001\u809d\u6a5f\u80fd\u969c\u5bb3\u3001\u809d\u786c\u5909\u3092\u7d4c\u3066\u6700\u7d42\u7684\u306b\u809d\u4e0d\u5168\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u9032\u884c\u304c\u901f\u3044\u5834\u5408\u306b\u306f5\u6b73\u672a\u6e80\u3067\u81f4\u6b7b\u7684\u3068\u306a\u308b\u304c\u3001\u975e\u9032\u884c\u6027\u306e\u75c7\u4f8b\u3067\u306f\u6210\u4eba\u307e\u3067\u751f\u5b58\u3059\u308b\u3053\u3068\u3082\u3042\u308b\u3002\u795e\u7d4c\u7b4b\u578b\u3067\u306f\u7b4b\u529b\u4f4e\u4e0b\u3084\u5fc3\u7b4b\u75c7\u304c\u8a8d\u3081\u3089\u308c\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u80ce\u5150\u6c34\u816b\u3084\u5148\u5929\u6027\u95a2\u7bc0\u62d8\u7e2e\u3092\u4f34\u3044\u3001\u65b0\u751f\u5150\u671f\u306b\u6b7b\u4ea1\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002\u6210\u4eba\u578b\u306eAPBD\u306f\u4e2d\u67a2\u795e\u7d4c\u304a\u3088\u3073\u672b\u68a2\u795e\u7d4c\u3092\u969c\u5bb3\u3057\u3001\u904b\u52d5\u969c\u5bb3\u3084\u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306f\u809d\u751f\u691c\u3084\u7b4b\u751f\u691c\u306b\u3088\u308b\u7570\u5e38\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u306e\u78ba\u8a8d\u3001GBE1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306e\u7279\u5b9a\u3001\u304a\u3088\u3073\u9175\u7d20\u6d3b\u6027\u306e\u6e2c\u5b9a\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u308b\u3002\u809d\u79fb\u690d\u306f\u9032\u884c\u6027\u809d\u75be\u60a3\u578b\u306e\u4e3b\u8981\u306a\u6cbb\u7642\u6cd5\u3067\u3042\u308b\u304c\u3001\u6839\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u306a\u3044\u3002\u6804\u990a\u7ba1\u7406\u3084\u5bfe\u75c7\u7642\u6cd5\u304c\u91cd\u8981\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>GSD IV\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u767a\u751f\u983b\u5ea6\u306f\u51fa\u751f60\u4e07\u301c80\u4e07\u4f8b\u306b1\u4f8b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u3001\u7537\u5973\u3068\u3082\u306b\u7b49\u3057\u304f\u767a\u75c7\u3059\u308b\u3002\u5168\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u8caf\u8535\u75c5\u306e\u3046\u3061\u3001GSD IV\u306f\u7d043%\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>GBE1\u907a\u4f1d\u5b50\u306f3\u756a\u67d3\u8272\u4f53\uff083p12.2\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u5206\u679d\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u308b\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u03b1-1,4\u7d50\u5408\u3067\u76f4\u9396\u72b6\u306b\u7d50\u5408\u3057\u305f\u30b0\u30eb\u30b3\u30fc\u30b9\u9396\u3092\u03b1-1,6\u7d50\u5408\u306b\u3088\u308a\u679d\u5206\u304b\u308c\u3055\u305b\u308b\u5f79\u5272\u3092\u6301\u3064\u3002\u3053\u306e\u5206\u679d\u69cb\u9020\u306b\u3088\u308a\u3001\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u306e\u53ef\u6eb6\u6027\u304c\u9ad8\u307e\u308a\u3001\u52b9\u7387\u7684\u306a\u84c4\u7a4d\u3068\u5229\u7528\u304c\u53ef\u80fd\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p>GBE1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u9175\u7d20\u6d3b\u6027\u304c\u4f4e\u4e0b\u307e\u305f\u306f\u6d88\u5931\u3059\u308b\u3068\u3001\u7570\u5e38\u306a\u30a2\u30df\u30ed\u30da\u30af\u30c1\u30f3\u69d8\u591a\u7cd6\u304c\u7d44\u7e54\u306b\u84c4\u7a4d\u3057\u3001\u7d30\u80de\u6a5f\u80fd\u304c\u969c\u5bb3\u3055\u308c\u308b\u3002\u7279\u306b\u809d\u81d3\u3001\u7b4b\u8089\u3001\u5fc3\u81d3\u3001\u795e\u7d4c\u7cfb\u3078\u306e\u5f71\u97ff\u304c\u5927\u304d\u304f\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u591a\u69d8\u6027\u306b\u3064\u306a\u304c\u308b\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>GSD IV\u306e\u81e8\u5e8a\u8868\u73fe\u578b\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u5927\u304d\u304f\u4ee5\u4e0b\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u306b\u5206\u985e\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">1. <strong>\u9032\u884c\u6027\u809d\u75be\u60a3\u578b\uff08\u30af\u30e9\u30b7\u30c3\u30af\u578b\uff09<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5150\u671f\u65e9\u671f\u306b\u809d\u816b\u5927\uff08\u809d\u813e\u816b\uff09\u3084\u809d\u6a5f\u80fd\u969c\u5bb3\u3067\u767a\u75c7<\/li>\n\n\n\n<li>\u9032\u884c\u6027\u306e\u809d\u786c\u5909\u3092\u7d4c\u3066\u809d\u4e0d\u5168\u306b\u81f3\u308b<\/li>\n\n\n\n<li>\u4f4e\u8840\u7cd6\u306f\u7a00\u3067\u3042\u308b\u304c\u3001\u307e\u308c\u306b\u6301\u7d9a\u7684\u4f4e\u8840\u7cd6\u304c\u5831\u544a\u3055\u308c\u308b<\/li>\n\n\n\n<li>\u4e88\u5f8c\u4e0d\u826f\u3067\u3001\u809d\u79fb\u690d\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044<\/li>\n<\/ul>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\">2. <strong>\u975e\u9032\u884c\u6027\u809d\u75be\u60a3\u578b<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u809d\u816b\u5927\u3092\u5448\u3059\u308b\u304c\u3001\u809d\u786c\u5909\u306b\u9032\u884c\u3057\u306a\u3044<\/li>\n\n\n\n<li>\u7b4b\u529b\u4f4e\u4e0b\uff08\u30df\u30aa\u30d1\u30c1\u30fc\uff09\u3084\u5fc3\u7b4b\u75c7\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n\n<li>\u6210\u4eba\u307e\u3067\u751f\u5b58\u53ef\u80fd<\/li>\n<\/ul>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\">3. <strong>\u80ce\u5150\u30fb\u65b0\u751f\u5150\u795e\u7d4c\u7b4b\u578b\uff08\u81f4\u6b7b\u578b\uff09<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u80ce\u5150\u671f\u306b\u80ce\u5150\u7121\u52d5\u75c7\u5019\u7fa4\uff08FADS\uff09\u3001\u80ce\u5150\u6c34\u816b\u3001\u95a2\u7bc0\u62d8\u7e2e\u306a\u3069\u3092\u5448\u3059\u308b<\/li>\n\n\n\n<li>\u65b0\u751f\u5150\u671f\u306b\u91cd\u5ea6\u306e\u7b4b\u4f4e\u7dca\u5f35\u3001\u547c\u5438\u4e0d\u5168\u3001\u5fc3\u7b4b\u75c7\u3092\u767a\u75c7\u3057\u3001\u65e9\u671f\u6b7b\u4ea1\u3059\u308b<\/li>\n<\/ul>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\">4. <strong>\u5c0f\u5150\u767a\u75c7\u578b\u795e\u7d4c\u7b4b\u578b<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u671f\u5f8c\u534a\u306b\u7b4b\u529b\u4f4e\u4e0b\u3084\u5fc3\u7b4b\u75c7\u3092\u5448\u3059\u308b<\/li>\n\n\n\n<li>\u8efd\u75c7\u4f8b\u3067\u306f\u6210\u4eba\u307e\u3067\u751f\u5b58\u53ef\u80fd<\/li>\n<\/ul>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\">5. <strong>\u6210\u4eba\u30dd\u30ea\u30b0\u30eb\u30b3\u30b5\u30f3\u4f53\u75c5\uff08APBD\uff09<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>40\u6b73\u4ee5\u964d\u306b\u767a\u75c7\u3059\u308b\u9032\u884c\u6027\u795e\u7d4c\u75be\u60a3<\/li>\n\n\n\n<li>\u904b\u52d5\u969c\u5bb3\u3001\u8180\u80f1\u6a5f\u80fd\u969c\u5bb3\u3001\u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b\u3092\u7279\u5fb4\u3068\u3059\u308b<\/li>\n\n\n\n<li>\u4e2d\u67a2\u795e\u7d4c\u7cfb\u304a\u3088\u3073\u672b\u68a2\u795e\u7d4c\u7cfb\u306b\u7570\u5e38\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u84c4\u7a4d<\/li>\n<\/ul>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5316\u5b66\u691c\u67fb<\/strong>\uff1a\u809d\u6a5f\u80fd\u969c\u5bb3\u3001\u7b4b\u9175\u7d20\u4e0a\u6607<\/li>\n\n\n\n<li><strong>\u7d44\u7e54\u5b66\u7684\u691c\u67fb<\/strong>\uff1a\u809d\u751f\u691c\u3084\u7b4b\u751f\u691c\u3067PAS\u67d3\u8272\u967d\u6027\u306e\u7570\u5e38\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u84c4\u7a4d\u3092\u78ba\u8a8d<\/li>\n\n\n\n<li><strong>\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a<\/strong>\uff1a\u809d\u81d3\u3001\u7b4b\u8089\u3001\u76ae\u819a\u7dda\u7dad\u82bd\u7d30\u80de\u3067GBE1\u6d3b\u6027\u4f4e\u4e0b\u3092\u78ba\u8a8d<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\uff1aGBE1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u540c\u5b9a<\/li>\n<\/ul>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u809d\u79fb\u690d<\/strong>\uff1a\u9032\u884c\u6027\u809d\u75be\u60a3\u578b\u306e\u4e3b\u8981\u306a\u6cbb\u7642\u6cd5<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406<\/strong>\uff1a\u9ad8\u30bf\u30f3\u30d1\u30af\u30fb\u4f4e\u70ad\u6c34\u5316\u7269\u98df\u304c\u63a8\u5968\u3055\u308c\u308b<\/li>\n\n\n\n<li><strong>\u5bfe\u75c7\u7642\u6cd5<\/strong>\uff1a\u4f4e\u8840\u7cd6\u7ba1\u7406\u3001\u5fc3\u7b4b\u75c7\u3084\u795e\u7d4c\u75c7\u72b6\u306e\u76e3\u8996<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u795e\u7d4c\u7b4b\u578b\u3067\u306f\u7b4b\u529b\u7dad\u6301\u3092\u76ee\u7684\u3068\u3057\u305f\u30ea\u30cf\u30d3\u30ea\u304c\u5fc5\u8981<\/li>\n<\/ul>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>GSD IV\u306e\u4e88\u5f8c\u306f\u75c5\u578b\u306b\u3088\u308a\u5927\u304d\u304f\u7570\u306a\u308b\u3002\u9032\u884c\u6027\u809d\u75be\u60a3\u578b\u3067\u306f\u672a\u6cbb\u7642\u306e\u5834\u5408\u30015\u6b73\u672a\u6e80\u3067\u6b7b\u4ea1\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u809d\u79fb\u690d\u306b\u3088\u308a\u751f\u547d\u4e88\u5f8c\u306f\u6539\u5584\u3059\u308b\u304c\u3001\u4ed6\u81d3\u5668\u306e\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u84c4\u7a4d\u3092\u9632\u3050\u3053\u3068\u306f\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u975e\u9032\u884c\u6027\u809d\u75be\u60a3\u578b\u3084\u5c0f\u5150\u767a\u75c7\u578b\u795e\u7d4c\u7b4b\u578b\u3067\u306f\u3001\u6210\u4eba\u307e\u3067\u306e\u751f\u5b58\u304c\u53ef\u80fd\u3067\u3042\u308b\u304c\u3001\u7b4b\u529b\u4f4e\u4e0b\u3084\u5fc3\u7b4b\u75c7\u306e\u9032\u884c\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002APBD\u3067\u306f\u795e\u7d4c\u75c7\u72b6\u304c\u5f90\u3005\u306b\u9032\u884c\u3057\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08ADL\uff09\u304c\u4f4e\u4e0b\u3059\u308b\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u30b1\u30a2\u304c\u6c42\u3081\u3089\u308c\u308b\u3002<\/p>\n\n\n\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\/10.3389\/fgene.2022.1033944\">Li, Y., Tian, C., Huang, S., Zhang, W., Liutang, Q., Wang, Y., Ma, G., &amp; Chen, R. (2022). Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene. <em>Frontiers in Genetics<\/em>, <em>13<\/em>, 1033944. https:\/\/doi.org\/10.3389\/fgene.2022.1033944<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.gim.2022.01.073\">Taylor, A., Carroll, J., Jalkanen, A., &amp; Mori, M. (2022). Ep035: Genotype-phenotype correlation of glycogen storage disease type iv. <em>Genetics in Medicine<\/em>, <em>24<\/em>(3), S23. https:\/\/doi.org\/10.1016\/j.gim.2022.01.073<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1172\/jci.insight.177722\">Koch, R. L., Kiely, B. T., Choi, S. J., Jeck, W. R., Flores, L. S., Sood, V., Alam, S., Porta, G., LaVecchio, K., Soler-Alfonso, C., &amp; Kishnani, P. S. (2024). Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys\/ys model. <em>JCI insight<\/em>, <em>9<\/em>(12), e177722. https:\/\/doi.org\/10.1172\/jci.insight.177722<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12692\">Lef\u00e8vre, C. R., Collardeau\u2010Frachon, S., Streichenberger, N., Berenguer\u2010Martin, S., Cl\u00e9menson, A., Massardier, J., Prieur, F., Laurichesse, H., Laffargue, F., Acquaviva\u2010Bourdain, C., Froissart, R., &amp; Pettazzoni, M. (2024). Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series. <em>Journal of Inherited Metabolic Disease<\/em>, <em>47<\/em>(2), 255\u2013269. https:\/\/doi.org\/10.1002\/jimd.12692<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/biomedicines11020363\">Wilke, M. V. M. B., De Oliveira, B. M., Starosta, R. T., Shinawi, M., Lu, L., He, M., Ma, Y., Stoll, J., De Souza, C. F. M., De Siqueira, A. C. M., Vieira, S. M. G., Cerski, C. T., Refosco, L. F., &amp; Schwartz, I. V. D. (2023). A broad characterization of glycogen storage disease iv patients: A clinical, genetic, and histopathological study. <em>Biomedicines<\/em>, <em>11<\/em>(2), 363. https:\/\/doi.org\/10.3390\/biomedicines11020363<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.nmd.2023.07.004\">Oliwa, A., Langlands, G., Sarkozy, A., Munot, P., Stewart, W., Phadke, R., Topf, A., Straub, V., Duncan, R., Wigley, R., Petty, R., Longman, C., &amp; Farrugia, M. E. (2023). Glycogen storage disease type IV without detectable polyglucosan bodies: Importance of broad gene panels. <em>Neuromuscular Disorders<\/em>, <em>33<\/em>(9), 98\u2013105. https:\/\/doi.org\/10.1016\/j.nmd.2023.07.004<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u8caf\u8535\u75c5IV\u578b, GSD IV, GBE1, \u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u5206\u679d\u9175\u7d20, \u4ee3\u8b1d\u7570\u5e38, \u907a\u4f1d\u6027\u75be\u60a3, \u809d\u75be\u60a3, \u7b4b\u75be\u60a3, \u795e\u7d4c\u75be\u60a3, \u30dd\u30ea\u30b0\u30eb\u30b3\u30b5\u30f3\u4f53\u75c5, \u809d\u79fb\u690d, \u4f4e\u8840\u7cd6<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60294","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\/60294","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":6,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60294\/revisions"}],"predecessor-version":[{"id":128103,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60294\/revisions\/128103"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60294"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}