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class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u6cbb\u7642\u3067\u4ee3\u8b1d\u306e\u72b6\u614b\u3092\u6539\u5584\u3057\u3001\u6025\u306a\u60aa\u5316\u3092\u9632\u3050\u3053\u3068\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/strong>\u6cbb\u7642\u3078\u306e\u53cd\u5fdc\u3084\u7d4c\u904e\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7\u306e\u5c02\u9580\u533b\u306e\u3082\u3068\u3067\u7d9a\u3051\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d2\u30c9\u30ed\u30ad\u30bd\u30b3\u30d0\u30e9\u30df\u30f3\uff08\u30d3\u30bf\u30df\u30f3B12\u306e\u4e00\u7a2e\uff09\u306e\u6ce8\u5c04<\/strong>\uff1a\u6cbb\u7642\u306e\u4e2d\u5fc3\u3067\u3059\u3002<strong>\u30b7\u30a2\u30ce\u30b3\u30d0\u30e9\u30df\u30f3\u3067\u306f\u52b9\u679c\u304c\u4e0d\u5341\u5206\u3068\u3055\u308c\u3066\u3044\u307e\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u30d9\u30bf\u30a4\u30f3<\/strong>\uff1a\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3092\u4e0b\u3052\u3001\u30e1\u30c1\u30aa\u30cb\u30f3\u3092\u88dc\u3046\u305f\u3081\u306b\u4f7f\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8449\u9178\uff08\u30d5\u30a9\u30ea\u30f3\u9178\uff09\u30fb\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u88dc\u5145<\/strong><\/li>\n\n\n\n<li><strong>\u4f53\u8abf\u3092\u5d29\u3057\u305f\u3068\u304d\u306e\u65e9\u3081\u306e\u5bfe\u5fdc<\/strong>\uff1a\u611f\u67d3\u75c7\u3084\u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3068\u304d\u306f\u60aa\u5316\u3057\u3084\u3059\u3044\u305f\u3081\u3001\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u76ee\u30fb\u814e\u81d3\u30fb\u5fc3\u81d3\u30fb\u767a\u9054\u306e\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u3068\u3001\u7642\u80b2\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306a\u3069\u306e\u652f\u63f4<\/strong><\/li>\n\n\n<\/ul>\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<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>MMACHC<\/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<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<p class=\"wp-block-paragraph\">\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>MMACHC<\/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<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<p class=\"wp-block-paragraph\">\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<p class=\"wp-block-paragraph\">\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<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>MMACHC<\/strong> \u306f\u7d30\u80de\u8cea\u3067\u30b3\u30d0\u30e9\u30df\u30f3\u306e\u4e0a\u8ef8\u914d\u4f4d\u5b50\u3092\u9664\u53bb\u3057\uff08\u30b7\u30a2\u30ce\u30b3\u30d0\u30e9\u30df\u30f3\u306e\u8131\u30b7\u30a2\u30ce\u5316\u3001\u30a2\u30eb\u30ad\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\u306e\u8131\u30a2\u30eb\u30ad\u30eb\u5316\uff09\u3001\u30b3\u30d0\u30e9\u30df\u30f3\u3092\u5f8c\u7d9a\u306e\u51e6\u7406\u7d4c\u8def\u3078\u53d7\u3051\u6e21\u3059\u3002\u6b20\u640d\u3059\u308b\u3068<strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u30a2\u30c7\u30ce\u30b7\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\uff08\u30e1\u30c1\u30eb\u30de\u30ed\u30cb\u30ebCoA\u30e0\u30bf\u30fc\u30bc\u306e\u88dc\u9175\u7d20\uff09\u3068\u7d30\u80de\u8cea\u306e\u30e1\u30c1\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\uff08\u30e1\u30c1\u30aa\u30cb\u30f3\u5408\u6210\u9175\u7d20\u306e\u88dc\u9175\u7d20\uff09\u306e\u53cc\u65b9\u304c\u6b20\u4e4f<\/strong>\u3057\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u3068\u9ad8\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u8840\u75c7\u30fb\u4f4e\u30e1\u30c1\u30aa\u30cb\u30f3\u8840\u75c7\u304c\u4f75\u5b58\u3059\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u907a\u4f1d\u578b\u3068\u8868\u73fe\u578b\u306b\u306f\u3042\u308b\u7a0b\u5ea6\u306e\u76f8\u95a2\u304c\u3042\u308b<\/strong>\u2014\u2014<strong>c.271dupA<\/strong> \u306f\u6b27\u7c73\u3067\u3082\u3063\u3068\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u5909\u7570\u3067\u3001\u30db\u30e2\u63a5\u5408\u3067\u306f\u65e9\u671f\u767a\u75c7\u578b\u3092\u3068\u308b\u3002\u6771\u30a2\u30b8\u30a2\u3067\u306f <strong>c.609G&gt;A\uff08p.Trp203Ter\uff09<\/strong> \u306e\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u3084\u306f\u308a\u65e9\u671f\u767a\u75c7\u578b\u3068\u95a2\u9023\u3059\u308b\u3002\u3053\u308c\u306b\u5bfe\u3057 <strong>c.394C&gt;T\uff08p.Arg132Ter\uff09<\/strong> \u306f\u9045\u767a\u578b\u3068\u306e\u95a2\u9023\u304c\u77e5\u3089\u308c\u308b\u3002<strong>\u65e9\u671f\u767a\u75c7\u578b\u3067\u306f\u6cbb\u7642\u4e0b\u3067\u3082\u7db2\u819c\u75c7\uff08\u9ec4\u6591\u75c7\uff09\u30fb\u773c\u632f\u304c\u9032\u884c\u3057\u3084\u3059\u304f\u3001\u795e\u7d4c\u767a\u9054\u4e88\u5f8c\u3082\u4e0d\u826f\u306a\u4f8b\u304c\u591a\u3044<\/strong>\u3002\u307e\u305f\u3001\u80ce\u5150\u671f\u304b\u3089\u767a\u75c7\u3057\u3001\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\u30fb\u5c0f\u982d\u75c7\u30fb\u5fc3\u5947\u5f62\u3092\u4f34\u3046\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u540c\u3058\u304f\u8907\u5408\u578b\u3092\u793a\u3059 cblD\u578b\uff08<em>MMADHC<\/em>\uff09\u3001cblF\u578b\uff08<em>LMBRD1<\/em>\uff09\u3001cblJ\u578b\uff08<em>ABCD4<\/em>\uff09\u3001<strong>X\u9023\u9396\u6027\u306e cblX\u578b\uff08<em>HCFC1<\/em>\u3001MMACHC \u306e\u8ee2\u5199\u3092\u5236\u5fa1\u3059\u308b\u56e0\u5b50\u306e\u7570\u5e38\uff09<\/strong>\u3001\u3055\u3089\u306b <em>PRDX1<\/em> \u5909\u7570\u306b\u4f34\u3046 <em>MMACHC<\/em> \u306e\u30a8\u30d4\u5909\u7570\uff08epi-cblC\uff09\u304c\u6319\u304c\u308b\u3002\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u5358\u72ec\u306e\u4e0a\u6607\u3067\u3042\u308c\u3070 <em>MMUT<\/em>\u30fb<em>MMAA<\/em>\u30fb<em>MMAB<\/em> \u306e\u7570\u5e38\u3001\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u5358\u72ec\u3067\u3042\u308c\u3070 cblE\u578b\u30fbcblG\u578b\u30fbMTHFR\u6b20\u640d\u75c7\u3092\u8003\u3048\u308b\u3002<strong>\u6bcd\u4f53\u306e\u30d3\u30bf\u30df\u30f3B12\u6b20\u4e4f\u306b\u3088\u308b\u65b0\u751f\u5150\u306e\u4e8c\u6b21\u7684\u306a\u7570\u5e38\u3082\u91cd\u8981\u306a\u9451\u5225\u3067\u3042\u308b<\/strong>\u3002<strong>cblX\u578b\u3067\u306f\u6b21\u5b50\u518d\u767a\u7387\u304c\u7537\u5150\u30672\u5206\u306e1\u3068\u306a\u308a\u3001epi-cblC \u3067\u306f\u907a\u4f1d\u306e\u69d8\u5f0f\u81ea\u4f53\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u7537\u306e\u5b50\u30fb\u5973\u306e\u5b50\u3067\u78ba\u7387\u306f\u5909\u308f\u308a\u307e\u305b\u3093\u3002\u4f3c\u305f\u75c5\u6c17\u306e\u306a\u304b\u306b\u306f\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308b\u3082\u306e\uff08X\u9023\u9396\u6027\u306e cblX\u578b\u306a\u3069\uff09\u3082\u3042\u308b\u305f\u3081\u3001<strong>\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u898b\u3064\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u3068\u3057\u3066\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3059\u3079\u3066\u306e\u65b9\u304c\u898b\u3064\u304b\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3068\u304f\u306b\u9045\u767a\u578b\u3067\u306f\u3001\u65b0\u751f\u5150\u671f\u306e\u691c\u67fb\u5024\u304c\u306f\u3063\u304d\u308a\u3057\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3054\u5bb6\u65cf\u306b\u8a3a\u65ad\u3055\u308c\u305f\u65b9\u304c\u3044\u308b\u5834\u5408\u306f\u3001\u4e3b\u6cbb\u533b\u306b\u305d\u306e\u65e8\u3092\u304a\u4f1d\u3048\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u65e9\u304f\u898b\u3064\u304b\u308c\u3070\u3001\u3075\u3064\u3046\u306b\u6210\u9577\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u65e9\u304f\u6cbb\u7642\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u6025\u306a\u60aa\u5316\u3084\u8840\u6db2\u30fb\u814e\u81d3\u306e\u91cd\u3044\u5408\u4f75\u75c7\u3092\u9632\u304e\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u65e9\u671f\u767a\u75c7\u578b\u3067\u306f\u6cbb\u7642\u3092\u7d9a\u3051\u3066\u3044\u3066\u3082\u3001\u76ee\u306e\u75c7\u72b6\u3084\u767a\u9054\u306e\u9045\u308c\u304c\u6b8b\u308b\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u7d4c\u904e\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u305f\u3081\u3001\u5c02\u9580\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u898b\u5b88\u3063\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u30d3\u30bf\u30df\u30f3B12\u306e\u30b5\u30d7\u30ea\u30e1\u30f3\u30c8\u3092\u98f2\u3081\u3070\u9632\u3052\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3044\u3044\u3048\u3002\u3053\u306e\u75c5\u6c17\u306f\u3001\u4f53\u306b\u5165\u3063\u305f\u30d3\u30bf\u30df\u30f3B12\u3092\u7d30\u80de\u306e\u306a\u304b\u3067\u4f7f\u3048\u308b\u5f62\u306b\u5909\u3048\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u539f\u56e0\u3067\u3001\u30d3\u30bf\u30df\u30f3B12\u306e\u4e0d\u8db3\u3068\u306f\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u6cbb\u7642\u306f\u3001\u533b\u5e2b\u306e\u7ba1\u7406\u306e\u3082\u3068\u3067\u30d2\u30c9\u30ed\u30ad\u30bd\u30b3\u30d0\u30e9\u30df\u30f3\u306e\u6ce8\u5c04\u306a\u3069\u3092\u884c\u3044\u307e\u3059\u3002\u81ea\u5df1\u5224\u65ad\u306e\u30b5\u30d7\u30ea\u30e1\u30f3\u30c8\u3067\u306f\u4ee3\u308f\u308a\u306b\u306a\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Sloan JL, Carrillo N, Adams D, Venditti CP. Disorders of Intracellular Cobalamin Metabolism. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #277400 Methylmalonic aciduria and homocystinuria, cblC type. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Lerner-Ellis JP, Tirone JC, Pawelek PD, et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. <em>Nat Genet<\/em>. 2006;38(1):93-100.<\/li>\n\n\n\n<li>Carrillo-Carrasco N, Chandler RJ, Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. <em>J Inherit Metab Dis<\/em>. 2012;35(1):91-102.<\/li>\n\n\n\n<li>Huemer M, Diodato D, Schwahn B, et al. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. <em>J Inherit Metab Dis<\/em>. 2017;40(1):21-48.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147426","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\/147426","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":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147426\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147426"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}