{"id":33694,"date":"2022-07-11T18:15:56","date_gmt":"2022-07-11T09:15:56","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33694"},"modified":"2026-04-28T13:16:25","modified_gmt":"2026-04-28T04:16:25","slug":"glycogen-storage-disease-1a","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-1a\/","title":{"rendered":"\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u84c4\u7a4d\u75c71\u578b\uff08GSD I\uff09"},"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\u75c71\u578b\uff08GSD I\uff09\u306f\u3001\u907a\u4f1d\u6027\u306e\u4ee3\u8b1d\u75be\u60a3\u3067\u3001\u809d\u81d3\u3084\u814e\u81d3\u306b\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u304c\u7570\u5e38\u306b\u84c4\u7a4d\u3057\u3001\u4f4e\u8840\u7cd6\u3084\u4ee3\u8b1d\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001GSD I\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u5909\u7570\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u306e\u6700\u524d\u7dda\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u3001\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u306b\u3082\u89e6\u308c\u3066\u3044\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>G6PC1\uff5cGlycogen Storage Disease, Type 1A<\/p>\n\n\n\n<p><sup>Glycogen Storage Disease Type I; Von Gierke Disease; Hepatorenal Glycogenosis; Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ia<\/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\u75c7\uff08GSD\uff09\u306f\u3001\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u306e\u5408\u6210\u307e\u305f\u306f\u5206\u89e3\u306e\u7570\u5e38\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u7a00\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u306b\u306f\u809d\u578bGSD\u3068\u7b4b\u578bGSD\u304c\u3042\u308a\u3001\u591a\u81d3\u5668\u306b\u308f\u305f\u308b\u75c7\u72b6\u3092\u793a\u3059\u3002GSD\u306e\u8a3a\u65ad\u3068\u7ba1\u7406\u306b\u306f\u3001\u8868\u73fe\u578b\u306e\u7279\u5b9a\u3001\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u3001\u753b\u50cf\u8a3a\u65ad\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u3001\u304a\u3088\u3073\u7d44\u7e54\u5b66\u7684\u691c\u67fb\u304c\u8003\u616e\u3055\u308c\u308b\u3002\u6cbb\u7642\u306b\u306f\u3001\u4f4e\u8840\u7cd6\u4e88\u9632\u306e\u305f\u3081\u306e\u98df\u4e8b\u7642\u6cd5\u3001\u904b\u52d5\u7ba1\u7406\u3001\u75be\u60a3\u7279\u7570\u7684\u6cbb\u7642\uff08\u4f8b\uff1a\u30dd\u30f3\u30da\u75c5\u306b\u5bfe\u3059\u308b\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u3001GSD Ib\u306e\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u306b\u5bfe\u3059\u308bSGLT2\u963b\u5bb3\u85ac\uff09\u304c\u542b\u307e\u308c\u308b\u3002\u8a3a\u65ad\u30fb\u7ba1\u7406\u306e\u9032\u6b69\u306fGSD\u306e\u81ea\u7136\u7d4c\u904e\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u60a3\u8005\u306e\u7f79\u60a3\u7387\u304a\u3088\u3073\u6b7b\u4ea1\u7387\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3002\u73fe\u5728\u3001GSD\u306e\u81ea\u7136\u6b74\u306e\u7814\u7a76\u304c\u9032\u884c\u4e2d\u3067\u3042\u308a\u3001\u6a19\u6e96\u5316\u3055\u308c\u305f\u60a3\u8005\u4e2d\u5fc3\u306e\u30a2\u30a6\u30c8\u30ab\u30e0\u30bb\u30c3\u30c8\u306f\u672a\u78ba\u7acb\u3067\u3042\u308b\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u65b0\u898f\u6cbb\u7642\u6cd5\u304a\u3088\u3073GSD\u306e\u81e8\u5e8a\u8a66\u9a13\u306b\u3064\u3044\u3066\u3082\u8b70\u8ad6\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>GSD\u306e\u767a\u751f\u7387\u306f\u7d041\/100,000\u3067\u3042\u308a\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u3002\u7279\u306bGSD Ia\u306f\u30a2\u30b7\u30e5\u30b1\u30ca\u30fc\u30b8\u7cfb\u30e6\u30c0\u30e4\u4eba\u306b\u591a\u304f\u898b\u3089\u308c\u308b\u3002GSD\u306f\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u304c\u3001\u4e00\u90e8\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u306b\u306f\u78ba\u7acb\u3055\u308c\u305f\u8a3a\u65ad\u30fb\u7ba1\u7406\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u304c\u5b58\u5728\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>GSD\u306f\u30b0\u30eb\u30b3\u30fc\u30b9\u304a\u3088\u3073\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u4ee3\u8b1d\u7d4c\u8def\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GSD Ia<\/strong>\uff1aG6PC1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u30b0\u30eb\u30b3\u30fc\u30b9-6-\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\uff08G6Pase\uff09\u304c\u6b20\u640d\u3057\u3001\u4f4e\u8840\u7cd6\u304a\u3088\u3073\u809d\u816b\u5927\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/li>\n\n\n\n<li><strong>GSD Ib<\/strong>\uff1aSLC37A4\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001G6P\u306e\u5c0f\u80de\u4f53\u5185\u3078\u306e\u8f38\u9001\u304c\u969c\u5bb3\u3055\u308c\u308b\u3002<\/li>\n<\/ul>\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><strong>\u4e73\u5150\u671f\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u8840\u7cd6\uff08\u672a\u6cbb\u7642\u3067\u306f\u75d9\u6523\u306e\u30ea\u30b9\u30af\u3042\u308a\uff09<\/li>\n\n\n\n<li>\u809d\u816b\u5927\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u9ad8\u5c3f\u9178\u8840\u75c7\u3001\u9ad8\u8102\u8840\u75c7<\/li>\n\n\n\n<li>\u8179\u90e8\u81a8\u9686\u3001\u767a\u80b2\u9045\u5ef6<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5c0f\u5150\uff5e\u6210\u4eba\u671f\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u9045\u5ef6\u3001\u4f4e\u8eab\u9577\u3001\u601d\u6625\u671f\u9045\u5ef6<\/li>\n\n\n\n<li>\u814e\u75be\u60a3\uff08\u814e\u7d50\u77f3\u3001\u814e\u4e0d\u5168\uff09<\/li>\n\n\n\n<li>\u809d\u817a\u816b\uff08\u60aa\u6027\u5316\u30ea\u30b9\u30af\u3042\u308a\uff09<\/li>\n\n\n\n<li>GSD Ib\u3067\u306f\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u304a\u3088\u3073\u6162\u6027\u708e\u75c7<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p><strong>\u78ba\u5b9a\u8a3a\u65ad<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u691c\u67fb\uff1aG6PC1\uff08GSD Ia\uff09\u307e\u305f\u306fSLC37A4\uff08GSD Ib\uff09\u306e\u75c5\u7684\u5909\u7570\u306e\u78ba\u8a8d<\/li>\n\n\n\n<li>\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\uff08GSD Ia\u306e\u307f\uff09\uff1a\u809d\u751f\u691c\u306b\u3088\u308bG6Pase\u6d3b\u6027\u306e\u8a55\u4fa1<\/li>\n<\/ul>\n\n\n\n<p><strong>\u88dc\u52a9\u7684\u691c\u67fb<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u6db2\u691c\u67fb\uff1a\u8840\u7cd6\u4f4e\u4e0b\u3001\u4e73\u9178\u30fb\u5c3f\u9178\u30fb\u8102\u8cea\u306e\u4e0a\u6607<\/li>\n\n\n\n<li>\u753b\u50cf\u691c\u67fb\uff1a\u809d\u816b\u5927\u30fb\u814e\u816b\u5927\u306e\u8a55\u4fa1\uff08\u8d85\u97f3\u6ce2\u3001CT\u3001MRI\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p><strong>\u98df\u4e8b\u7642\u6cd5<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u8840\u7cd6\u4e88\u9632\uff1a\u672a\u8abf\u7406\u30b3\u30fc\u30f3\u30b9\u30bf\u30fc\u30c1\u6442\u53d6\u3001\u983b\u56de\u306e\u70ad\u6c34\u5316\u7269\u6442\u53d6<\/li>\n\n\n\n<li>\u7cd6\u65b0\u751f\u969c\u5bb3\u5bfe\u7b56\uff1a\u30b7\u30e7\u7cd6\u3001\u679c\u7cd6\u3001\u4e73\u7cd6\u306e\u5236\u9650<\/li>\n\n\n\n<li>\u6804\u990a\u88dc\u52a9\uff1a\u30d3\u30bf\u30df\u30f3\u30fb\u30df\u30cd\u30e9\u30eb\u88dc\u7d66<\/li>\n<\/ul>\n\n\n\n<p><strong>\u85ac\u7269\u7642\u6cd5<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u8102\u8840\u75c7\u5bfe\u7b56\uff1a\u30b9\u30bf\u30c1\u30f3\u3001\u30d5\u30a3\u30d6\u30e9\u30fc\u30c8<\/li>\n\n\n\n<li>\u9ad8\u5c3f\u9178\u8840\u75c7\u5bfe\u7b56\uff1a\u30a2\u30ed\u30d7\u30ea\u30ce\u30fc\u30eb<\/li>\n\n\n\n<li>\u814e\u75be\u60a3\u7ba1\u7406\uff1aACE\u963b\u5bb3\u85ac<\/li>\n\n\n\n<li>GSD Ib\u306e\u514d\u75ab\u7ba1\u7406\uff1a\u9846\u7c92\u7403\u30b3\u30ed\u30cb\u30fc\u523a\u6fc0\u56e0\u5b50\uff08G-CSF\uff09\u3001SGLT2\u963b\u5bb3\u85ac<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u809d\u817a\u816b\uff1a\u7d4c\u76ae\u7684\u30a8\u30bf\u30ce\u30fc\u30eb\u6ce8\u5165\u7642\u6cd5\uff08PEIT\uff09\u3001\u30e9\u30b8\u30aa\u6ce2\u713c\u707c\u7642\u6cd5\uff08RFA\uff09<\/li>\n\n\n\n<li>\u814e\u4e0d\u5168\uff1a\u814e\u79fb\u690d<\/li>\n\n\n\n<li>\u9032\u884c\u3057\u305f\u809d\u75be\u60a3\uff1a\u809d\u79fb\u690d<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u9069\u5207\u306a\u6cbb\u7642\u3092\u53d7\u3051\u305f\u5834\u5408\u3001\u6210\u9577\u3068\u767a\u9054\u306f\u6b63\u5e38\u306b\u8fd1\u3044\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002GSD Ib\u3067\u306f\u514d\u75ab\u7570\u5e38\u306b\u3088\u308b\u611f\u67d3\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u3001\u708e\u75c7\u6027\u8178\u75be\u60a3\u306e\u767a\u75c7\u304c\u898b\u3089\u308c\u308b\u3002\u814e\u75be\u60a3\u306e\u9032\u884c\u306b\u3088\u308a\u814e\u79fb\u690d\u304c\u5fc5\u8981\u3068\u306a\u308b\u5834\u5408\u3082\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u73fe\u5728\u306e\u7814\u7a76\u52d5\u5411 | Recent Research Directions<\/h2>\n\n\n\n<p><strong>G6PC1\u306e\u69cb\u9020\u3068\u6a5f\u80fd\u89e3\u6790<\/strong> G6PC1\u306f\u7cd6\u65b0\u751f\u304a\u3088\u3073\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u5206\u89e3\u306e\u6700\u7d42\u53cd\u5fdc\u3092\u5a92\u4ecb\u3057\u3001\u5c0f\u80de\u4f53\u5185\u3067G6P\u3092\u52a0\u6c34\u5206\u89e3\u3059\u308b\u819c\u8cab\u901a\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3042\u308b\u3002AlphaFold2\uff08AF2\uff09\u306b\u3088\u308bG6PC1\u306e\u30e2\u30c7\u30eb\u3092\u7528\u3044\u305f\u5206\u5b50\u52d5\u529b\u5b66\uff08MD\uff09\u30b7\u30df\u30e5\u30ec\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u308a\u3001G6P\u306e\u7d50\u5408\u6a5f\u69cb\u3068\u75c5\u7684\u5909\u7570\u306e\u5f71\u97ff\u304c\u89e3\u6790\u3055\u308c\u305f\u3002\u3053\u306e\u7814\u7a76\u3067\u306f\u3001G6PC1\u306e\u6d3b\u6027\u90e8\u4f4d\u306b\u304a\u3051\u308b\u6c34\u7d20\u7d50\u5408\u304a\u3088\u3073\u30d5\u30a1\u30f3\u30c7\u30eb\u30ef\u30fc\u30eb\u30b9\u76f8\u4e92\u4f5c\u7528\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u3001\u75c5\u7684\u5909\u7570\u304cG6P\u7d50\u5408\u30a8\u30cd\u30eb\u30ae\u30fc\u3084\u9175\u7d20\u306e\u71b1\u5b89\u5b9a\u6027\u306b\u53ca\u307c\u3059\u5f71\u97ff\u304c\u8a55\u4fa1\u3055\u308c\u305f\u3002<\/p>\n\n\n\n<p><strong>GSD Ia\u60a3\u8005\u7dda\u7dad\u82bd\u7d30\u80de\u306e\u75c5\u614b\u89e3\u6790<\/strong> GSD Ia\u60a3\u8005\u7531\u6765\u306e\u76ae\u819a\u7dda\u7dad\u82bd\u7d30\u80de\u306fG6PC1\u3092\u767a\u73fe\u3057\u306a\u3044\u306b\u3082\u95a2\u308f\u3089\u305a\u3001\u7279\u5fb4\u7684\u306a\u75c5\u614b\u3092\u793a\u3059\u3053\u3068\u304c\u767a\u898b\u3055\u308c\u305f\u3002HCA\u306b\u3088\u308b\u8868\u73fe\u578b\u89e3\u6790\u306e\u7d50\u679c\u3001\u3053\u308c\u3089\u306e\u7d30\u80de\u3067\u306f\u30ea\u30bd\u30bd\u30fc\u30e0\u304a\u3088\u3073\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u306e\u7570\u5e38\u304c\u78ba\u8a8d\u3055\u308c\u3001NAD+\/NADH-Sirt1-TFEB\u7d4c\u8def\u306e\u8ee2\u5199\u7570\u5e38\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u305f\u3002\u3055\u3089\u306b\u3001\u30d2\u30b9\u30c8\u30f3H3\u30a2\u30bb\u30c1\u30eb\u5316\u306e\u4fee\u6b63\u306b\u3088\u308a\u3001\u75c5\u614b\u304c\u56de\u5fa9\u3059\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u3002GSD Ia\u60a3\u8005\u306e\u7d30\u80de\u3092\u5bfe\u8c61\u3068\u3057\u305f\u6cbb\u7642\u85acGHF201\u306f\u3001\u809d\u7279\u7570\u7684G6PC1\u30ce\u30c3\u30af\u30a2\u30a6\u30c8\u30de\u30a6\u30b9\u306b\u304a\u3044\u3066\u3082\u540c\u69d8\u306e\u52b9\u679c\u3092\u793a\u3057\u3001\u65b0\u305f\u306a\u6cbb\u7642\u6226\u7565\u306e\u53ef\u80fd\u6027\u3092\u793a\u5506\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p><strong>\u5c06\u6765\u306e\u5c55\u671b<\/strong> GSD Ia\u306e\u6cbb\u7642\u306b\u306f\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3084mRNA\u6cbb\u7642\u306e\u958b\u767a\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u75be\u60a3\u306e\u6839\u672c\u7684\u306a\u6cbb\u7642\u3078\u306e\u9053\u304c\u958b\u304b\u308c\u3066\u3044\u308b\u3002\u4eca\u5f8c\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u65b0\u898f\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u3068\u3068\u3082\u306b\u3001\u3088\u308a\u500b\u5225\u5316\u3055\u308c\u305f\u7ba1\u7406\u6226\u7565\u306e\u78ba\u7acb\u304c\u671f\u5f85\u3055\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:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1312\/\">Bali DS, El-Gharbawy A, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2021 Oct 14]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1312\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/gim.2014.128\">Kishnani, P., Austin, S., Abdenur, J. <em>et al.<\/em> Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. <em>Genet Med<\/em> <strong>16<\/strong>, e1 (2014). https:\/\/doi.org\/10.1038\/gim.2014.128<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41572-023-00456-z\">Hannah, W.B., Derks, T.G.J., Drumm, M.L. <em>et al.<\/em> Glycogen storage diseases. <em>Nat Rev Dis Primers<\/em> <strong>9<\/strong>, 46 (2023). https:\/\/doi.org\/10.1038\/s41572-023-00456-z<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/pnasnexus\/pgae036\">Sinclair, M., Stein, R. A., Sheehan, J. H., Hawes, E. M., O\u2019Brien, R.  M., Tajkhorshid, E., &amp; Claxton, D. P. (2024). Integrative analysis  of pathogenic variants in glucose-6-phosphatase based on an AlphaFold2  model. <i>PNAS Nexus<\/i>, <i>3<\/i>(2), pgae036. https:\/\/doi.org\/10.1093\/pnasnexus\/pgae036<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1101\/2023.02.20.529109\">Sprecher, U., D\u2019Souza, J., Mishra, K., Muchtar, N., Shalev, O., Eliassaf, A., Morshina, A., Canella Miliano, A., Mithieux, G., Rajas, F., Avraham, S., Castellani, M. F., Kauffman, H., Bergman, Y., Garti, N., Garti, S., Linial, M., Anikster, Y., Kakhlon, O., &amp; Weil, M. (2023). <em>Disease-associated programming of cell memory in glycogen storage disorder type 1a<\/em>. https:\/\/doi.org\/10.1101\/2023.02.20.529109<\/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\u84c4\u7a4d\u75c7, GSD I, GSD Ia, GSD Ib, G6PC1, SLC37A4, \u4f4e\u8840\u7cd6, \u809d\u816b\u5927, \u907a\u4f1d\u6027\u75be\u60a3, \u4ee3\u8b1d\u7570\u5e38, \u5e0c\u5c11\u75be\u60a3, \u907a\u4f1d\u5b50\u691c\u67fb, \u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a, \u98df\u4e8b\u7642\u6cd5, G-CSF, \u809d\u817a\u816b, \u9ad8\u5c3f\u9178\u8840\u75c7, \u9ad8\u8102\u8840\u75c7, \u814e\u6a5f\u80fd\u969c\u5bb3<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":32,"template":"page_gd.php","class_list":["post-33694","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\/33694","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":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33694\/revisions"}],"predecessor-version":[{"id":127727,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33694\/revisions\/127727"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33694"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}