{"id":47534,"date":"2024-01-26T11:35:24","date_gmt":"2024-01-26T11:35:24","guid":{"rendered":"https:\/\/science-hub.click\/%E3%83%9D%E3%83%B3%E3%83%9A%E7%97%85%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%E8%A9%B3%E3%81%97%E3%81%8F%E8%A7%A3%E8%AA%AC\/"},"modified":"2024-01-26T11:35:24","modified_gmt":"2024-01-26T11:35:24","slug":"%E3%83%9D%E3%83%B3%E3%83%9A%E7%97%85%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%E8%A9%B3%E3%81%97%E3%81%8F%E8%A7%A3%E8%AA%AC","status":"publish","type":"post","link":"https:\/\/science-hub.click\/?p=47534","title":{"rendered":"\u30dd\u30f3\u30da\u75c5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac"},"content":{"rendered":"

\u5c0e\u5165<\/h2>
\u30dd\u30f3\u30da\u75c5<\/b><\/center><\/td><\/tr><\/table><\/th><\/tr>
\u5225\u540d<\/b><\/td>\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u75c7 2 \u578b<\/td><\/tr>
MIM \u30ea\u30d5\u30a1\u30ec\u30f3\u30b9<\/b><\/td>232300<\/td><\/tr>
\u4f1d\u67d3 ; \u611f\u67d3<\/b><\/td>\u52a3\u6027<\/td><\/tr>
\u67d3\u8272\u4f53<\/b><\/td>17 q25.2-q25.3 –<\/td><\/tr>
\u6065\u305a\u304b\u3057\u3044<\/b><\/td>GAA<\/span><\/td><\/tr>
\u89aa\u306e\u523b\u5370<\/b><\/td>\u3044\u3044\u3048<\/td><\/tr>
\u7a81\u7136\u5909\u7570<\/b><\/td>–<\/td><\/tr>
\u65b0\u3057\u3044\u7a81\u7136\u5909\u7570<\/b><\/td>?<\/td><\/tr>
\u75c5\u7684\u5bfe\u7acb\u907a\u4f1d\u5b50\u306e\u6570<\/b><\/td>150\u4ee5\u4e0a\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059<\/td><\/tr>
\u671f\u5f85<\/b><\/td>?<\/td><\/tr>
\u5065\u5eb7\u4fdd\u83cc\u8005<\/b><\/td>?<\/td><\/tr>
\u30a4\u30f3\u30d1\u30af\u30c8<\/b><\/td>\u30a2\u30d5\u30ea\u30ab\u7cfb\u30a2\u30e1\u30ea\u30ab\u4eba\u3067\u306f14,000\u4eba\u306b1\u4eba\u3001\u30e8\u30fc\u30ed\u30c3\u30d1<\/a><\/span>\u3067\u306f100,000\u4eba\u306b1\u4eba<\/td><\/tr>
\u6709\u75c5\u7387<\/b><\/td>?<\/td><\/tr>
\u6d78\u900f\u529b<\/b><\/td>?<\/td><\/tr>
\u4ef6\u6570<\/b><\/td>?<\/td><\/tr>
\u907a\u4f1d\u7684\u95a2\u9023\u75be\u60a3<\/b><\/td>\u306a\u3057<\/td><\/tr>
\u51fa\u751f\u524d\u8a3a\u65ad<\/b><\/td>\u53ef\u80fd<\/td><\/tr>
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\u3053\u306e\u75c5\u6c17\u306e\u540d\u524d\u306f\u30011932 \u5e74\u306b\u5fc3\u80a5\u5927<\/a><\/span>\u3067\u751f\u5f8c 7 \u304b\u6708<\/a><\/span>\u3067\u6b7b\u4ea1\u3057\u305f\u5b50\u4f9b\u306e\u3053\u306e\u75c5\u6c17\u306b\u3064\u3044\u3066\u8aac\u660e\u3057\u305f\u30aa\u30e9\u30f3\u30c0\u4eba\u533b\u5e2b<\/a><\/span>J.C.\u30dd\u30f3\u30da<\/a><\/span><\/span>\u306b\u7531\u6765\u3057\u307e\u3059\u3002<\/p>

\n\"\u30dd\u30f3\u30da\u75c5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\"<\/figure>

\u539f\u56e0<\/h2>

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\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d\u3067\u3042\u308a\u3001\u3053\u308c\u306f\u5065\u5eb7\u306a\u4fdd\u56e0\u8005\uff08\u7a81\u7136\u5909\u7570\u306f\u3042\u308b\u304c\u75c5\u6c17\u3092\u5448\u3057\u3066\u3044\u306a\u3044\u60a3\u8005\uff09\u306e\u5b58\u5728\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>

\u7a81\u7136\u5909\u7570\u306e\u7a2e\u985e\u306f\u3001\u75c5\u6c17\u306e\u75c7\u72b6 (\u4e73\u5150\u578b\u307e\u305f\u306f\u6210\u4eba\u578b) \u306b\u90e8\u5206\u7684\u306b\u306e\u307f\u95a2\u9023\u3057\u307e\u3059\u3002<\/p>

\u3053\u306e\u75c5\u6c17\u306f\u3001\u4f53\u5185\u306e\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u3092\u5206\u89e3\u3059\u308b\u305f\u3081\u306b\u4f7f\u7528\u3055\u308c\u308b\u9175\u7d20 \u03b1-\u30b0\u30eb\u30b3\u30b7\u30c0\u30fc\u30bc\u306e\u6e1b\u5c11\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u672a\u5206\u89e3\u306e\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u306f\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u3001\u5fc3\u81d3\u3001\u7b4b\u8089\u3001\u809d\u81d3<\/a><\/span>\u3001\u795e\u7d4c\u7cfb<\/a><\/span>\u306a\u3069\u306e\u3055\u307e\u3056\u307e\u306a\u7d44\u7e54\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002\u4f53\u306e\u767a\u80b2\u304c\u9045\u304f\u306a\u308a\u3001\u6b7b\u306b<\/a><\/span>\u81f3\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>

\u8aac\u660e<\/h2>

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\u5e7c\u5150\u5f62\u614b<\/span><\/h3>

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\u8074\u899a<\/a><\/span>\u969c\u5bb3\u306f\u901a\u5e38\u3001\u77e5\u899a\u307e\u305f\u306f\u4f1d\u9054\u306e\u7570\u5e38\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/p>

\u672a\u6cbb\u7642\u306e\u307e\u307e\u653e\u7f6e\u3059\u308b\u3068\u3001\u751f\u5f8c1\u5e74<\/a><\/span>\u4ee5\u5185\u306b\u6b7b\u4ea1\u3057\u307e\u3059\u3002<\/p>

\n\"\u30dd\u30f3\u30da\u75c5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\"<\/figure>

\u5927\u4eba\u306e\u30d5\u30a9\u30fc\u30e0<\/span><\/h3>

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\n\"\u30dd\u30f3\u30da\u75c5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\"<\/figure>

\u53c2\u8003\u8cc7\u6599<\/h2>
  1. \u062f\u0627\u0621 \u0627\u062e\u062a\u0632\u0627\u0646 \u0627\u0644\u063a\u0644\u0627\u064a\u0643\u0648\u062c\u064a\u0646 \u0627\u0644\u0646\u0645\u0637 \u0627\u0644\u062b\u0627\u0646\u064a \u2013 arabe<\/a><\/li>
  2. Pompe x\u0259st\u0259liyi \u2013 azerba\u00efdjanais<\/a><\/li>
  3. Bolest skladi\u0161tenja glikogena tipa II \u2013 bosniaque<\/a><\/li>
  4. Malaltia de Pompe \u2013 catalan<\/a><\/li>
  5. Pompeho choroba \u2013 tch\u00e8que<\/a><\/li>
  6. Morbus Pompe \u2013 allemand<\/a><\/li><\/ol><\/div>\n
    \n

    \n \u30dd\u30f3\u30da\u75c5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u30fb\u95a2\u9023\u52d5\u753b\n <\/h2>\n
    \n \n
    \n
    \n