http://120.24.161.253:5617/index.php?action=history&feed=atom&title=%E5%8E%9F%E5%8F%91%E6%80%A7%E8%82%89%E7%A2%B1%E7%BC%BA%E4%B9%8F%E7%97%87-%E5%90%8C%E4%B9%89%E8%AF%8D-PCD 2026-05-08T23:59:53Z 本wiki的该页面的版本历史 MediaWiki 1.30.0 http://120.24.161.253:5617/index.php?title=%E5%8E%9F%E5%8F%91%E6%80%A7%E8%82%89%E7%A2%B1%E7%BC%BA%E4%B9%8F%E7%97%87-%E5%90%8C%E4%B9%89%E8%AF%8D-PCD&diff=2028176&oldid=prev 2026-04-16T04:38:02Z

<p>导入1个版本</p> <table class="diff diff-contentalign-left" data-mw="interface"> <tr style="vertical-align: top;" lang="zh-CN"> <td colspan="1" style="background-color: white; color:black; text-align: center;">←上一版本</td> <td colspan="1" style="background-color: white; color:black; text-align: center;">2026年4月16日 (四) 04:38的版本</td> </tr><tr><td colspan="2" style="text-align: center;" lang="zh-CN"><div class="mw-diff-empty">（没有差异）</div> </td></tr></table>

KGadmin http://120.24.161.253:5617/index.php?title=%E5%8E%9F%E5%8F%91%E6%80%A7%E8%82%89%E7%A2%B1%E7%BC%BA%E4%B9%8F%E7%97%87-%E5%90%8C%E4%B9%89%E8%AF%8D-PCD&diff=2007718&oldid=prev 2026-04-15T13:17:27Z

<p>导入1个版本</p> <table class="diff diff-contentalign-left" data-mw="interface"> <col class="diff-marker" /> <col class="diff-content" /> <col class="diff-marker" /> <col class="diff-content" /> <tr style="vertical-align: top;" lang="zh-CN"> <td colspan="2" style="background-color: white; color:black; text-align: center;">←上一版本</td> <td colspan="2" style="background-color: white; color:black; text-align: center;">2026年4月15日 (三) 13:17的版本</td> </tr><tr><td colspan="2" class="diff-lineno" id="mw-diff-left-l5" >第5行：</td> <td colspan="2" class="diff-lineno">第5行：</td></tr> <tr><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"></td><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"></td></tr> <tr><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"><div>==来源==</div></td><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"><div>==来源==</div></td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>===<del class="diffchange diffchange-inline">原发性肉碱缺乏症新生儿17例的血液肉碱谱及&#160; &#160; SLC22A5基因变异分析</del>===</div></td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>===<ins class="diffchange diffchange-inline">儿童代谢性心肌病11例诊治分析</ins>===</div></td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">对福建宁德地区的新生儿进行串联质谱筛查，分析17例疑似</del>[[原发性肉碱缺乏症]](primary carnitine <del class="diffchange diffchange-inline">deficiency，</del>[[PCD]])<del class="diffchange diffchange-inline">新生儿的血游离肉碱</del>(<del class="diffchange diffchange-inline">C0</del>)<del class="diffchange diffchange-inline">以及</del></div></td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">结果11例患儿中有6例经血串联质谱检测及SLC22A5基因测序确诊为[[原发性肉碱缺乏症]](primarycarnitinedeifciency，[[PCD]])，4例经外周血α一酸性葡萄糖苷酶活性测定确诊为糖原累积病Ⅱ型(glycogenstoragedisease，</ins></div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>&#160;</div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">===反复肺炎为主要表现的原发性肉碱缺乏症的临床特点===</ins></div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">目的 探讨以反复肺炎为主要表现的[[原发性肉碱缺乏症]]([[PCD]])的临床特点.</ins></div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>&#160;</div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">===儿童代谢性心肌病11例诊治分析===</ins></div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">结果11例患儿中有6例经血串联质谱检测及SLC22A5基因测序确诊为[[原发性肉碱缺乏症]]（primary carnitine deficiency，[[PCD]]），4例经外周血α-酸性葡萄糖苷酶活性测定确诊为糖原累积病Ⅱ型（glycogen storage dise</ins></div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>&#160;</div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">===一个核黄素反应型多种酰基辅酶A脱氢酶缺乏症家系的基因突变分析===</ins></div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">目的 对1例误诊为</ins>[[原发性肉碱缺乏症]](primary carnitine <ins class="diffchange diffchange-inline">deficiency,[[PCD]])的核黄素反应型多种酰基辅酶A脱氢酶缺乏症(riboflavin responsive-multiple acyl-CoA dehydrogenase de</ins></div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>&#160;</div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">===原发性肉碱缺乏症的筛查与患者SLC22A5基因突变分析===</ins></div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">目的 探讨[[原发性肉碱缺乏症]](primary camitine deficiency,</ins>[[PCD]])<ins class="diffchange diffchange-inline">患者的临床特点和SLC22A5基因突变情况.</ins></div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>&#160;</div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">===一个原发性肉碱缺乏症家系的基因突变分析及产前诊断===</ins></div></td></tr> <tr><td colspan="2">&#160;</td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">目的 分析1例[[原发性肉碱缺乏症]]</ins>(<ins class="diffchange diffchange-inline">primary carnitine deficiency,[[PCD]]</ins>)<ins class="diffchange diffchange-inline">患儿及其父母SLC22A5基因的突变类型,为其家系成员提供遗传咨询及产前诊断.</ins></div></td></tr> </table>

KGadmin http://120.24.161.253:5617/index.php?title=%E5%8E%9F%E5%8F%91%E6%80%A7%E8%82%89%E7%A2%B1%E7%BC%BA%E4%B9%8F%E7%97%87-%E5%90%8C%E4%B9%89%E8%AF%8D-PCD&diff=2028175&oldid=prev 2026-04-13T13:56:59Z

<p>修改1</p> <table class="diff diff-contentalign-left" data-mw="interface"> <col class="diff-marker" /> <col class="diff-content" /> <col class="diff-marker" /> <col class="diff-content" /> <tr style="vertical-align: top;" lang="zh-CN"> <td colspan="2" style="background-color: white; color:black; text-align: center;">←上一版本</td> <td colspan="2" style="background-color: white; color:black; text-align: center;">2026年4月13日 (一) 13:56的版本</td> </tr><tr><td colspan="2" class="diff-lineno" id="mw-diff-left-l5" >第5行：</td> <td colspan="2" class="diff-lineno">第5行：</td></tr> <tr><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"></td><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"></td></tr> <tr><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"><div>==来源==</div></td><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"><div>==来源==</div></td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>===<del class="diffchange diffchange-inline">儿童代谢性心肌病11例诊治分析</del>===</div></td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>===<ins class="diffchange diffchange-inline">原发性肉碱缺乏症新生儿17例的血液肉碱谱及&#160; &#160; SLC22A5基因变异分析</ins>===</div></td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">结果11例患儿中有6例经血串联质谱检测及SLC22A5基因测序确诊为</del>[[原发性肉碱缺乏症]](<del class="diffchange diffchange-inline">primarycarnitinedeifciency，[[PCD]])，4例经外周血α一酸性葡萄糖苷酶活性测定确诊为糖原累积病Ⅱ型(glycogenstoragedisease，</del></div></td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">对福建宁德地区的新生儿进行串联质谱筛查，分析17例疑似</ins>[[原发性肉碱缺乏症]](<ins class="diffchange diffchange-inline">primary </ins>carnitine deficiency，[[PCD]])<ins class="diffchange diffchange-inline">新生儿的血游离肉碱</ins>(<ins class="diffchange diffchange-inline">C0</ins>)<ins class="diffchange diffchange-inline">以及</ins></div></td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>&#160;</div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">===反复肺炎为主要表现的原发性肉碱缺乏症的临床特点===</del></div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">目的 探讨以反复肺炎为主要表现的[[原发性肉碱缺乏症]]([[PCD]])的临床特点.</del></div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>&#160;</div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">===儿童代谢性心肌病11例诊治分析===</del></div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">结果11例患儿中有6例经血串联质谱检测及SLC22A5基因测序确诊为[[原发性肉碱缺乏症]]（primary </del>carnitine deficiency，<del class="diffchange diffchange-inline">[[PCD]]），4例经外周血α-酸性葡萄糖苷酶活性测定确诊为糖原累积病Ⅱ型（glycogen storage dise</del></div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>&#160;</div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">===一个核黄素反应型多种酰基辅酶A脱氢酶缺乏症家系的基因突变分析===</del></div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">目的 对1例误诊为[[原发性肉碱缺乏症]](primary carnitine deficiency,[[PCD]])的核黄素反应型多种酰基辅酶A脱氢酶缺乏症(riboflavin responsive-multiple acyl-CoA dehydrogenase de</del></div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>&#160;</div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">===原发性肉碱缺乏症的筛查与患者SLC22A5基因突变分析===</del></div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">目的 探讨[[原发性肉碱缺乏症]](primary camitine deficiency,</del>[[PCD]])<del class="diffchange diffchange-inline">患者的临床特点和SLC22A5基因突变情况.</del></div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>&#160;</div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">===一个原发性肉碱缺乏症家系的基因突变分析及产前诊断===</del></div></td><td colspan="2">&#160;</td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">目的 分析1例[[原发性肉碱缺乏症]]</del>(<del class="diffchange diffchange-inline">primary carnitine deficiency,[[PCD]]</del>)<del class="diffchange diffchange-inline">患儿及其父母SLC22A5基因的突变类型,为其家系成员提供遗传咨询及产前诊断.</del></div></td><td colspan="2">&#160;</td></tr> </table>

Admin http://120.24.161.253:5617/index.php?title=%E5%8E%9F%E5%8F%91%E6%80%A7%E8%82%89%E7%A2%B1%E7%BC%BA%E4%B9%8F%E7%97%87-%E5%90%8C%E4%B9%89%E8%AF%8D-PCD&diff=2007717&oldid=prev 2026-04-13T13:56:59Z

<p>修改1</p> <p><b>新页面</b></p><div>主实体：[[原发性肉碱缺乏症]]，关系：[[同义词]] ，尾实体：[[PCD]]<br /> <br /> ==关系介绍==<br /> 待补充<br /> <br /> ==来源==<br /> ===儿童代谢性心肌病11例诊治分析===<br /> 结果11例患儿中有6例经血串联质谱检测及SLC22A5基因测序确诊为[[原发性肉碱缺乏症]](primarycarnitinedeifciency，[[PCD]])，4例经外周血α一酸性葡萄糖苷酶活性测定确诊为糖原累积病Ⅱ型(glycogenstoragedisease，<br /> <br /> ===反复肺炎为主要表现的原发性肉碱缺乏症的临床特点===<br /> 目的 探讨以反复肺炎为主要表现的[[原发性肉碱缺乏症]]([[PCD]])的临床特点.<br /> <br /> ===儿童代谢性心肌病11例诊治分析===<br /> 结果11例患儿中有6例经血串联质谱检测及SLC22A5基因测序确诊为[[原发性肉碱缺乏症]]（primary carnitine deficiency，[[PCD]]），4例经外周血α-酸性葡萄糖苷酶活性测定确诊为糖原累积病Ⅱ型（glycogen storage dise<br /> <br /> ===一个核黄素反应型多种酰基辅酶A脱氢酶缺乏症家系的基因突变分析===<br /> 目的 对1例误诊为[[原发性肉碱缺乏症]](primary carnitine deficiency,[[PCD]])的核黄素反应型多种酰基辅酶A脱氢酶缺乏症(riboflavin responsive-multiple acyl-CoA dehydrogenase de<br /> <br /> ===原发性肉碱缺乏症的筛查与患者SLC22A5基因突变分析===<br /> 目的 探讨[[原发性肉碱缺乏症]](primary camitine deficiency,[[PCD]])患者的临床特点和SLC22A5基因突变情况.<br /> <br /> ===一个原发性肉碱缺乏症家系的基因突变分析及产前诊断===<br /> 目的 分析1例[[原发性肉碱缺乏症]](primary carnitine deficiency,[[PCD]])患儿及其父母SLC22A5基因的突变类型,为其家系成员提供遗传咨询及产前诊断.</div>

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