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糖原累积病-同义词-GSD - 版本历史
2026-05-07T23:59:58Z
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KGadmin：导入1个版本
2026-04-16T04:37:20Z
<p>导入1个版本</p>
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KGadmin
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KGadmin：导入1个版本
2026-04-15T13:12:47Z
<p>导入1个版本</p>
<table class="diff diff-contentalign-left" data-mw="interface">
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<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) 13:12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'> </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'> </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'> </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'> </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">糖原累积病1a型1例报道</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">1例糖原累积病患儿酸性-α-葡萄糖苷酶基因的新无义突变p.W738X</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">摘要 </del>[[糖原累积病]]<del class="diffchange diffchange-inline">（</del>[[GSD]]<del class="diffchange diffchange-inline">）1a型是由于葡萄糖-6-磷酸酶催化亚单位缺陷所致的常染色体隐性遗传病，属于一种罕见的遗传代谢性疾病。</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">结论 GAA酶活性测定结合基因诊断明确诊断1例临床疑似</ins>[[糖原累积病]]<ins class="diffchange diffchange-inline">(</ins>[[GSD]]<ins class="diffchange diffchange-inline">)Ⅱ型,发现1个GAA基因新无义突变p.W738X.根据患儿临床表现可诊断为婴儿型[[GSD]] Ⅱ,推测p.W738X突变对GAA酶活性影响严重.</ins></div></td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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">婴儿型糖原累积病Ⅳ型1例临床、肝脏病理特征及1,4-α-葡聚糖分支酶基因分析</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">肝糖原累积病研究进展</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>[[糖原累积病]]([[GSD]])<del class="diffchange diffchange-inline">是由于糖原合成或分解代谢酶的缺陷而引起的一大类疾病，为常染色体隐性遗传病⋯。</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>[[糖原累积病]](<ins class="diffchange diffchange-inline">glycogen storage disease,</ins>[[GSD]])<ins class="diffchange diffchange-inline">是一种由先天性酶缺陷所导致的糖代谢障碍疾病,主要临床表现为低血糖、肝脾大及生长发育迟缓.</ins></div></td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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">23例成人肝糖原累积病的临床和病理分析</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">14例糖原累积病临床、病理特征及治疗</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>[[糖原累积病]](<del class="diffchange diffchange-inline">glycogenstoragedisease，</del>[[GSD]])<del class="diffchange diffchange-inline">是一组由于先天性酶缺陷所致的糖代谢障碍，欧洲发病率为4／10万一5／10万。</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">目的回顾性分析14例[[糖原累积病]]（[[GSD]]）患儿的临床表现、病理特征、治疗情况及随访，提高对[[GSD]]的认识。</ins></div></td></tr>
<tr><td colspan="2"> </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> </div></td></tr>
<tr><td colspan="2"> </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">===糖原累积病VI型和Xa型7例病例报告并文献复习===</ins></div></td></tr>
<tr><td colspan="2"> </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 总结</ins>[[糖原累积病]]([[GSD]])<ins class="diffchange diffchange-inline">VI、IXa型的临床、病理和基因突变情况,提高临床对这两型[[GSD]]的认识.</ins></div></td></tr>
<tr><td class='diff-marker'> </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'> </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'> </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>===青少年痛风的罕见原因——糖原累积病Ⅰa型临床研究===</div></td><td class='diff-marker'> </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>===青少年痛风的罕见原因——糖原累积病Ⅰa型临床研究===</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">发病年龄早的患者应警惕继发性痛风，其中</del>[[糖原累积病]](<del class="diffchange diffchange-inline">glycogenstoragediseases，</del>[[GSD]])<del class="diffchange diffchange-inline">是痛风的罕见病因之一[-，。</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">目的 探讨</ins>[[糖原累积病]](<ins class="diffchange diffchange-inline">glycogen storage diseases,</ins>[[GSD]])<ins class="diffchange diffchange-inline">Ⅰ a型继发痛风的临床特点,提高对本病的认识.</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> </div></td><td colspan="2"> </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">===糖原累积病Ⅰa型患儿20例基因突变分析与临床研究===</del></div></td><td colspan="2"> </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">[[糖原累积病]]([[GSD]])是一组糖原代谢异常的常染色体隐|生遗传病。</del></div></td><td colspan="2"> </td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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">第81例——老年男性,运动能力差、易跌倒55年,双下肢无力13年伴双上肢无力三年</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">SLC37A4基因新突变致糖原累积病Ⅰb型一家系报道并文献复习</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">定性诊断：依据患者自幼运动发育落后，发病后病情缓慢进展，主要累及骨骼肌、心脏，有近亲结婚病史，考虑：（1）代谢性肌病中的</del>[[糖原累积病]]<del class="diffchange diffchange-inline">（</del>[[GSD]]<del class="diffchange diffchange-inline">），该病存在多种亚型，其中以进行性肌无力为主要表现的亚型主要是Ⅱ、Ⅲ、Ⅳ型，患者肌电图检查出现肌源性损害，合并肝脏和心肌受累重点考虑Ⅱ型；（2）中性脂肪沉积症伴肌病，可出现非对称性肌无力及心脏病表现，但是合并脊柱强直较少，也少有肌强直放电；（3）肌原纤维肌病，该患者40岁出现肌肉、关节、心脏受累，肌电图出现肌源性损害及神经源性损害需要考虑该诊断，多数患者具有显性遗传家族史；（4）强直性肌营养不良，患者肌肉、心脏受累，肌电图多块肌肉出现大量肌强直放电，需要考虑到该病，但该病一般具有典型的斧头脸，在强直性肌营养不良1型主要是肢体远端无力和双手的肌强直，可以合并脱发、糖尿病、白内障等系统性损害，2型主要是肢体近端无力，心脏多为传导系统受累，和该患者的临床表现不符。</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>[[糖原累积病]]<ins class="diffchange diffchange-inline">(</ins>[[GSD]]<ins class="diffchange diffchange-inline">)是一种以糖原代谢异常为主要特征的常染色体隐性遗传病,主要临床表现为肝脏增大、高乳酸血症、高尿酸血症、高脂血症、低糖血症、生长发育迟缓、中性粒细胞计数减少、中性粒细胞功能损伤及炎症性肠病等.</ins></div></td></tr>
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KGadmin
http://120.24.161.253:5617/index.php?title=%E7%B3%96%E5%8E%9F%E7%B4%AF%E7%A7%AF%E7%97%85-%E5%90%8C%E4%B9%89%E8%AF%8D-GSD&diff=2026857&oldid=prev
Admin：修改1
2026-04-13T13:56:59Z
<p>修改1</p>
<table class="diff diff-contentalign-left" data-mw="interface">
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<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'> </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'> </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'> </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'> </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">1例糖原累积病患儿酸性-α-葡萄糖苷酶基因的新无义突变p.W738X</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">糖原累积病1a型1例报道</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">结论 GAA酶活性测定结合基因诊断明确诊断1例临床疑似</del>[[糖原累积病]]<del class="diffchange diffchange-inline">(</del>[[GSD]]<del class="diffchange diffchange-inline">)Ⅱ型,发现1个GAA基因新无义突变p.W738X.根据患儿临床表现可诊断为婴儿型[[GSD]] Ⅱ,推测p.W738X突变对GAA酶活性影响严重.</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">摘要 </ins>[[糖原累积病]]<ins class="diffchange diffchange-inline">（</ins>[[GSD]]<ins class="diffchange diffchange-inline">）1a型是由于葡萄糖-6-磷酸酶催化亚单位缺陷所致的常染色体隐性遗传病，属于一种罕见的遗传代谢性疾病。</ins></div></td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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">肝糖原累积病研究进展</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">婴儿型糖原累积病Ⅳ型1例临床、肝脏病理特征及1,4-α-葡聚糖分支酶基因分析</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>[[糖原累积病]](<del class="diffchange diffchange-inline">glycogen storage disease,</del>[[GSD]])<del class="diffchange diffchange-inline">是一种由先天性酶缺陷所导致的糖代谢障碍疾病,主要临床表现为低血糖、肝脾大及生长发育迟缓.</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>[[糖原累积病]]([[GSD]])<ins class="diffchange diffchange-inline">是由于糖原合成或分解代谢酶的缺陷而引起的一大类疾病，为常染色体隐性遗传病⋯。</ins></div></td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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">14例糖原累积病临床、病理特征及治疗</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">23例成人肝糖原累积病的临床和病理分析</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">目的回顾性分析14例</del>[[糖原累积病]]<del class="diffchange diffchange-inline">（</del>[[GSD]]<del class="diffchange diffchange-inline">）患儿的临床表现、病理特征、治疗情况及随访，提高对[[GSD]]的认识。</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>[[糖原累积病]]<ins class="diffchange diffchange-inline">(glycogenstoragedisease，</ins>[[GSD]]<ins class="diffchange diffchange-inline">)是一组由于先天性酶缺陷所致的糖代谢障碍，欧洲发病率为4／10万一5／10万。</ins></div></td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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">糖原累积病VI型和Xa型7例病例报告并文献复习</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">青少年痛风的罕见原因——糖原累积病Ⅰa型临床研究</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">目的 总结</del>[[糖原累积病]]([[GSD]])<del class="diffchange diffchange-inline">VI、IXa型的临床、病理和基因突变情况,提高临床对这两型</del>[<del class="diffchange diffchange-inline">[GSD]]的认识.</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">发病年龄早的患者应警惕继发性痛风，其中</ins>[[糖原累积病]](<ins class="diffchange diffchange-inline">glycogenstoragediseases，</ins>[[GSD]])<ins class="diffchange diffchange-inline">是痛风的罕见病因之一</ins>[<ins class="diffchange diffchange-inline">-，。</ins></div></td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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">青少年痛风的罕见原因——糖原累积病Ⅰa型临床研究</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">糖原累积病Ⅰa型患儿20例基因突变分析与临床研究</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">目的 探讨</del>[[糖原累积病]](<del class="diffchange diffchange-inline">glycogen storage diseases,</del>[[GSD]])<del class="diffchange diffchange-inline">Ⅰ a型继发痛风的临床特点,提高对本病的认识.</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>[[糖原累积病]]([[GSD]])<ins class="diffchange diffchange-inline">是一组糖原代谢异常的常染色体隐|生遗传病。</ins></div></td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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">SLC37A4基因新突变致糖原累积病Ⅰb型一家系报道并文献复习</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">第81例——老年男性,运动能力差、易跌倒55年,双下肢无力13年伴双上肢无力三年</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>[[糖原累积病]]<del class="diffchange diffchange-inline">(</del>[[GSD]]<del class="diffchange diffchange-inline">)是一种以糖原代谢异常为主要特征的常染色体隐性遗传病,主要临床表现为肝脏增大、高乳酸血症、高尿酸血症、高脂血症、低糖血症、生长发育迟缓、中性粒细胞计数减少、中性粒细胞功能损伤及炎症性肠病等.</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">定性诊断：依据患者自幼运动发育落后，发病后病情缓慢进展，主要累及骨骼肌、心脏，有近亲结婚病史，考虑：（1）代谢性肌病中的</ins>[[糖原累积病]]<ins class="diffchange diffchange-inline">（</ins>[[GSD]]<ins class="diffchange diffchange-inline">），该病存在多种亚型，其中以进行性肌无力为主要表现的亚型主要是Ⅱ、Ⅲ、Ⅳ型，患者肌电图检查出现肌源性损害，合并肝脏和心肌受累重点考虑Ⅱ型；（2）中性脂肪沉积症伴肌病，可出现非对称性肌无力及心脏病表现，但是合并脊柱强直较少，也少有肌强直放电；（3）肌原纤维肌病，该患者40岁出现肌肉、关节、心脏受累，肌电图出现肌源性损害及神经源性损害需要考虑该诊断，多数患者具有显性遗传家族史；（4）强直性肌营养不良，患者肌肉、心脏受累，肌电图多块肌肉出现大量肌强直放电，需要考虑到该病，但该病一般具有典型的斧头脸，在强直性肌营养不良1型主要是肢体远端无力和双手的肌强直，可以合并脱发、糖尿病、白内障等系统性损害，2型主要是肢体近端无力，心脏多为传导系统受累，和该患者的临床表现不符。</ins></div></td></tr>
</table>
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Admin：修改1
2026-04-13T13:56:59Z
<p>修改1</p>
<table class="diff diff-contentalign-left" data-mw="interface">
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<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-l1" >第1行：</td>
<td colspan="2" class="diff-lineno">第1行：</td></tr>
<tr><td class='diff-marker'> </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>主实体：[[糖原累积病]]，关系：[[同义词]] ，尾实体：[[GSD]]</div></td><td class='diff-marker'> </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>主实体：[[糖原累积病]]，关系：[[同义词]] ，尾实体：[[GSD]]</div></td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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 style="font-weight: bold; text-decoration: none;">实体ID:''2229249''</del></div></td><td colspan="2"> </td></tr>
<tr><td class='diff-marker'> </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>==关系介绍==</div></td><td class='diff-marker'> </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>==关系介绍==</div></td></tr>
<tr><td class='diff-marker'> </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>待补充</div></td><td class='diff-marker'> </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>待补充</div></td></tr>
<tr><td class='diff-marker'> </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'> </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'> </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'> </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>===1例糖原累积病患儿酸性-α-葡萄糖苷酶基因的新无义突变p.<del class="diffchange diffchange-inline">W738X（中华医学会文献）</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>===1例糖原累积病患儿酸性-α-葡萄糖苷酶基因的新无义突变p.<ins class="diffchange diffchange-inline">W738X</ins>===</div></td></tr>
<tr><td class='diff-marker'> </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>结论 GAA酶活性测定结合基因诊断明确诊断1例临床疑似[[糖原累积病]]([[GSD]])Ⅱ型,发现1个GAA基因新无义突变p.W738X.根据患儿临床表现可诊断为婴儿型[[GSD]] Ⅱ,推测p.W738X突变对GAA酶活性影响严重.</div></td><td class='diff-marker'> </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>结论 GAA酶活性测定结合基因诊断明确诊断1例临床疑似[[糖原累积病]]([[GSD]])Ⅱ型,发现1个GAA基因新无义突变p.W738X.根据患儿临床表现可诊断为婴儿型[[GSD]] Ⅱ,推测p.W738X突变对GAA酶活性影响严重.</div></td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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">肝糖原累积病研究进展（中华医学会文献）</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">肝糖原累积病研究进展</ins>===</div></td></tr>
<tr><td class='diff-marker'> </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>[[糖原累积病]](glycogen storage disease,[[GSD]])是一种由先天性酶缺陷所导致的糖代谢障碍疾病,主要临床表现为低血糖、肝脾大及生长发育迟缓.</div></td><td class='diff-marker'> </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>[[糖原累积病]](glycogen storage disease,[[GSD]])是一种由先天性酶缺陷所导致的糖代谢障碍疾病,主要临床表现为低血糖、肝脾大及生长发育迟缓.</div></td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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">14例糖原累积病临床、病理特征及治疗（中华医学会文献）</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">14例糖原累积病临床、病理特征及治疗</ins>===</div></td></tr>
<tr><td class='diff-marker'> </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>目的回顾性分析14例[[糖原累积病]]（[[GSD]]）患儿的临床表现、病理特征、治疗情况及随访，提高对[[GSD]]的认识。</div></td><td class='diff-marker'> </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>目的回顾性分析14例[[糖原累积病]]（[[GSD]]）患儿的临床表现、病理特征、治疗情况及随访，提高对[[GSD]]的认识。</div></td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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">糖原累积病VI型和Xa型7例病例报告并文献复习（中华医学会文献）</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">糖原累积病VI型和Xa型7例病例报告并文献复习</ins>===</div></td></tr>
<tr><td class='diff-marker'> </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>目的 总结[[糖原累积病]]([[GSD]])VI、IXa型的临床、病理和基因突变情况,提高临床对这两型[[GSD]]的认识.</div></td><td class='diff-marker'> </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>目的 总结[[糖原累积病]]([[GSD]])VI、IXa型的临床、病理和基因突变情况,提高临床对这两型[[GSD]]的认识.</div></td></tr>
<tr><td class='diff-marker'> </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'> </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'>−</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">青少年痛风的罕见原因——糖原累积病Ⅰa型临床研究（中华医学会文献）</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">青少年痛风的罕见原因——糖原累积病Ⅰa型临床研究</ins>===</div></td></tr>
<tr><td class='diff-marker'> </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>目的 探讨[[糖原累积病]](glycogen storage diseases,[[GSD]])Ⅰ a型继发痛风的临床特点,提高对本病的认识.</div></td><td class='diff-marker'> </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>目的 探讨[[糖原累积病]](glycogen storage diseases,[[GSD]])Ⅰ a型继发痛风的临床特点,提高对本病的认识.</div></td></tr>
<tr><td colspan="2"> </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 style="font-weight: bold; text-decoration: none;"></ins></div></td></tr>
<tr><td colspan="2"> </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 style="font-weight: bold; text-decoration: none;">===SLC37A4基因新突变致糖原累积病Ⅰb型一家系报道并文献复习===</ins></div></td></tr>
<tr><td colspan="2"> </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 style="font-weight: bold; text-decoration: none;">[[糖原累积病]]([[GSD]])是一种以糖原代谢异常为主要特征的常染色体隐性遗传病,主要临床表现为肝脏增大、高乳酸血症、高尿酸血症、高脂血症、低糖血症、生长发育迟缓、中性粒细胞计数减少、中性粒细胞功能损伤及炎症性肠病等.</ins></div></td></tr>
</table>
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<p><b>新页面</b></p><div>主实体：[[糖原累积病]]，关系：[[同义词]] ，尾实体：[[GSD]]<br />
<br />
实体ID:''2229249''<br />
==关系介绍==<br />
待补充<br />
<br />
==来源==<br />
===1例糖原累积病患儿酸性-α-葡萄糖苷酶基因的新无义突变p.W738X（中华医学会文献）===<br />
结论 GAA酶活性测定结合基因诊断明确诊断1例临床疑似[[糖原累积病]]([[GSD]])Ⅱ型,发现1个GAA基因新无义突变p.W738X.根据患儿临床表现可诊断为婴儿型[[GSD]] Ⅱ,推测p.W738X突变对GAA酶活性影响严重.<br />
<br />
===肝糖原累积病研究进展（中华医学会文献）===<br />
[[糖原累积病]](glycogen storage disease,[[GSD]])是一种由先天性酶缺陷所导致的糖代谢障碍疾病,主要临床表现为低血糖、肝脾大及生长发育迟缓.<br />
<br />
===14例糖原累积病临床、病理特征及治疗（中华医学会文献）===<br />
目的回顾性分析14例[[糖原累积病]]（[[GSD]]）患儿的临床表现、病理特征、治疗情况及随访，提高对[[GSD]]的认识。<br />
<br />
===糖原累积病VI型和Xa型7例病例报告并文献复习（中华医学会文献）===<br />
目的 总结[[糖原累积病]]([[GSD]])VI、IXa型的临床、病理和基因突变情况,提高临床对这两型[[GSD]]的认识.<br />
<br />
===青少年痛风的罕见原因——糖原累积病Ⅰa型临床研究（中华医学会文献）===<br />
目的 探讨[[糖原累积病]](glycogen storage diseases,[[GSD]])Ⅰ a型继发痛风的临床特点,提高对本病的认识.</div>
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