联合氧化磷酸化缺陷38型的临床和遗传学见解

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Clinical Case Reports Pub Date : 2025-02-26 DOI:10.1002/ccr3.70273

Birendra Kumar Yadav, Chaitanya Darshan Bhattarai, Sweta Singh, Kumar Basnet, Ashwini Gupta, Sajjad Ahmed Khan, Saurav Jha

引用次数: 0

摘要

早期识别和多学科管理复杂的条件，如COXPD-38是优化儿科患者的结果至关重要。持续监测代谢状态、发育进程和营养需求对于支持生长和提高生活质量至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Clinical and Genetic Insights Into Combined Oxidative Phosphorylation Defect Type 38

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Clinical and Genetic Insights Into Combined Oxidative Phosphorylation Defect Type 38

Early identification and multidisciplinary management of complex conditions such as COXPD-38 are crucial for optimizing outcomes in pediatric patients. Ongoing monitoring of metabolic status, developmental progress, and nutritional needs is essential for supporting growth and improving quality of life.

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来源期刊

Clinical Case Reports MEDICINE, GENERAL & INTERNAL-

自引率

14.30%

发文量

1268

审稿时长

13 weeks

期刊介绍： Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).