Titlebook: Rare Genetic Disorders; Advancements in Diag Muhammad Umair,Misbahuddin Rafeeq,Qamre Alam Book 2024 The Editor(s) (if applicable) and The A

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書目名稱Rare Genetic Disorders影響因子(影響力)




書目名稱Rare Genetic Disorders影響因子(影響力)學(xué)科排名




書目名稱Rare Genetic Disorders網(wǎng)絡(luò)公開度




書目名稱Rare Genetic Disorders網(wǎng)絡(luò)公開度學(xué)科排名




書目名稱Rare Genetic Disorders被引頻次




書目名稱Rare Genetic Disorders被引頻次學(xué)科排名




書目名稱Rare Genetic Disorders年度引用




書目名稱Rare Genetic Disorders年度引用學(xué)科排名




書目名稱Rare Genetic Disorders讀者反饋




書目名稱Rare Genetic Disorders讀者反饋學(xué)科排名

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Techniques for the Diagnosis of Rare Genetic Disorders,ften inherited from parents with mutant genes. Rare diseases afflict more than 300–400 million people worldwide, including 30 million in the United States, and often result in chronic illness, disability, and premature death. Using heuristic approaches to diagnose rare diseases is a common practice

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Disease Models for Rare Genetic Disorders,iagnosis, treatment, and overall quality of life for those affected by these conditions. Animal models stand as indispensable tools in rare disease research, offering insights into disease mechanisms, treatment efficacy, and potential interventions that ultimately improve the lives of those affected

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Drug Discovery and Development for Rare Genetic Disorders,e limited market size, expensive demand, and perhaps low financial return, research and development of rare disorder therapies have only recently increased internationally, in several domains including small-molecule pharmaceuticals and biologics. There is a considerable gap between fundamental rese

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Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations, and Therapeutic Advances inment and life-threatening complications. This comprehensive review summarizes current knowledge on the pathophysiological mechanisms, gene mutations, and therapeutic approaches for these conditions. Fabry disease stems from mutations in the GLA gene, leading to deficient α-galactosidase A enzyme act

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Current Insights into the Potential of Gene Therapy to Treat Rare Mitochondrial Diseases, and maintenance of mitochondria. These mutations disrupt the proteins and activities associated with mitochondria, resulting in impairments across various systems and organs in the body, leading to debilitating diseases. They are multisystemic in nature and contain mutations in both the nuclear and

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Challenges and Future Opportunities in Rare Genetic Disorders: A Comprehensive Review,ollectively affect millions of individuals globally. Genomic and personalised medicine have illuminated RGD aetiology, but many problems and potentials remain. This review discusses RGD challenges, future opportunities and highlights opportunities to improve patient care and research. Patients often

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