التفاصيل البيبلوغرافية
| العنوان: |
[A case of late-onset propionic acidemia with isolated dilated cardiomyopathy]. |
| المؤلفون: |
Shen LD; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China., Xu WR; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China., Li SR; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China., Tan QZ; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China., Zhang QY; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. |
| المصدر: |
Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2023 Apr 02; Vol. 61 (4), pp. 365-367. |
| نوع المنشور: |
Case Reports; Journal Article |
| اللغة: |
Chinese |
| بيانات الدورية: |
Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE |
| أسماء مطبوعة: |
Original Publication: Beijing : Chinese Medical Association, 1950 |
| مواضيع طبية MeSH: |
Propionic Acidemia*/complications , Cardiomyopathy, Dilated*/etiology, Humans |
| فهرسة مساهمة: |
Local Abstract: [Publisher, Chinese] 15岁患儿因“2个月余前运动后意识丧失伴心搏骤停1次”入北京大学第一医院，临床表现为运动后猝倒、意识丧失，呼吸、心搏骤停，外院予心肺复苏后自主呼吸、循环恢复，并予慢性抗心力衰竭、高压氧、肢体康复等治疗。超声心动图检查示左心室扩大伴心功能减低，全外显子测序发现PCCB基因复合杂合变异（c.184-2A>G和c.647T>C）。予慢性抗心力衰竭、饮食指导、能量合剂及大剂量辅酶Q 10 等治疗3个月后，心脏扩大及心功能较前改善。. |
| تواريخ الأحداث: |
Date Created: 20230403 Date Completed: 20230405 Latest Revision: 20230405 |
| رمز التحديث: |
20231215 |
| DOI: |
10.3760/cma.j.cn112140-20220704-00616 |
| PMID: |
37011985 |
| قاعدة البيانات: |
MEDLINE |
