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Libreria medica internazionale
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LIBRERIA STUDIUM
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Clinical Metabolomics Applications in Genetic Diseases
Abdel Rahman
Editore
Springer
Anno
2023
Pagine
350
ISBN
9789819951611
150,00 €

DA SCONTARE

I prezzi indicati possono subire variazioni poiché soggetti all'oscillazione dei cambi delle valute e/o agli aggiornamenti effettuati dagli Editori.

This book helps readers discover the forefront of personalized medicine on clinical metabolomics and its applications in genetic diseases. This comprehensive guide offers a functional relationship map between cell components and genetic variations in various diseases, providing insights that can be applied to personalized medicine.  

 


The book covers the latest developments in metabolomics for health, with practical guidance for clinical experts looking to advance their laboratory techniques and career. The metabolomics profile is a powerful tool that has revolutionized our understanding of the relationship between genetics, clinical readouts, and disease outcomes. By integrating metabolomics with genomics and clinical phenotypes, the authors have developed diagnostic and prediction models that have vastly improved patient outcomes and deepened the understanding of disease mechanisms. 

 

 

This model has been successfully applied in various conditions, including inborn errors of metabolism, primary immunodeficiency, and endocrine disorders. However, integrating metabolomics with other omics datasets and clinical phenotypes requires careful study design, analytical tools, and data analysis and interpretation. 

This groundbreaking new book provides essential guidance for researchers, students, and professionals looking to leverage metabolomics in their own work, including biochemical and clinical geneticists, pharmacogenomics and pharmacometabolomics experts, pharmaceutics and diagnostic researchers, medical scientists, clinical dietitians, metabolic engineers, clinical chemists, and personalized medicine specialists. 

  1. Front Matter

    Pages i-vi

    PDF

  2. The Advanced Technology and Clinical Application in Metabolomics

    • Anas M. Abdel Rahman

    Pages 1-15

  3. Mass Spectrometry-Based Metabolomics for the Clinical Laboratory

    • Joshua A. Dubland

    Pages 17-42

  4. Metabolomics: A Pipeline for Biomarker Discovery in Genetic Diseases

    • Lina A. Dahabiyeh, Refat M. Nimer

    Pages 43-69

  5. Bioinformatic Tools for Clinical Metabolomics

    • David S. Wishart

    Pages 71-96

  6. Untargeted Metabolomics in Newborn Screening

    • Joshua Manor, Sarah H. Elsea

    Pages 97-116

  7. Untargeted Metabolomics, Targeted Care: The Clinical Utilities of Bedside Metabolomics

    • Joshua Manor, Sarah H. Elsea

    Pages 117-145

  8. Metabolomics in the Study of Human Mitochondrial Diseases

    • Rajaa Sebaa, Mary-Ellen Harper, Ruqaiah Al-Tassan, Mohammed Al-Owain, Anas M. Abdel Rahman

    Pages 147-171

  9. Metabolomics of Rare Endocrine, Genetic Disease: A Focus on the Pituitary Gland

    • Afshan Masood, Abeer Malkawi, Anas M. Abdel Rahman, Mohamed Siaj

    Pages 173-187

  10. Metabolomics and Genetics of Rare Endocrine Disease: Adrenal, Parathyroid Glands, and Cystic Fibrosis

    • Afshan Masood, Abeer Malkawi, Mohamed Siaj, Anas M. Abdel Rahman

    Pages 189-206

  11. Metabolomic Role in Personalized Medicine: An Update

    • Minnie Jacob, Anas M. Abdel Rahman

    Pages 207-224

  12. Lipidomic Profiling in Clinical Practice Using LC-MS

    • Núria Amigó Grau, Pablo Ortiz Betes

    Pages 225-238

  13. Bringing Human Serum Lipidomics to the Forefront of Clinical Practice: Two Clinical Diagnosis Success Stories

    • Núria Amigó Grau, Pablo Ortiz Betes

    Pages 239-267

  14. LC-MS-Based Population Metabolomics: A Mini-Review of Recent Studies and Challenges from Sample Collection to Data Processing

    • Myriam Mireault, Lekha Sleno

    Pages 269-299

  15. Metabolomics and Transcriptomic Approach to Understand the Pathophysiology of Interstitial Lung Disease

    • Sanjukta Dasgupta, Anindita Bhattacharya, Priyanka Choudhury, Nilanjana Ghosh, Tanisha Das, Sushmita Roychowdhury et al.

    Pages 301-326

  16. Transferring Metabolomics to Portable Diagnostic Devices: Trending in Biosensors

    • Shimaa Eissa

    Pages 327-350

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