Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism
by Ursula Gresser, R.A. De Abreu, J. Aimi, F.X. Arredondo-Vega, B.A. Barshop, M.T. Bausch-Jurken, F.Van Den Bergh, G. Van Den Berghe, P. Casaer, J. Chen, P. De Cock, B.L. Davidson, P.M. Davies, J.E. Dixon, J.A. Duley, W. Friedrich, B.S. Gathof, U. Gresser, M. Gross, W. Gutensohn, W. Hartmann, J.F. Hendersohn, M.J. Hendersohn, M.S. Hershfield, J. Jaeken, I. Kamilli, D.K. Mahnke-Zizelman, F.A. Mateos, B.S. Mitchell, J.G. Puig, B.J. Roessler, R.L. Sabina, A.S. Sahota, I. Santisteban, Y.S. Shin, H.A: Simmonds, P.J. Stambrook, R.L. Stone, J.A. Tischfield, M. Tuchmann, M.F. Vincent, D.R. Wagner, K. Ward, R.W.E. Watts, H. Zalkin, N. Zöllner
Explore the molecular genetics, biochemistry, and clinical features of inherited disorders in purine and pyrimidine metabolism. This authoritative compilation by leading experts provides essential insights into the mechanisms, diagnosis, and management of these complex conditions, advancing understanding in medical genetics and metabolic research.
About This Book
This book delves into the intricate world of inherited disorders related to purine and pyrimidine metabolism, covering molecular genetics, biochemical pathways, and clinical manifestations. Edited by Ursula Gresser with contributions from a distinguished international panel of authors, it synthesizes cutting-edge research in these fields.
The text examines how disruptions in purine and pyrimidine pathways lead to various metabolic disorders, providing a foundation for understanding their genetic basis and biochemical alterations. It highlights the collaborative efforts of experts in genetics, biochemistry, and clinical medicine to advance knowledge in this specialized area.
Clinical aspects are addressed through discussions on diagnosis, treatment approaches, and patient outcomes, emphasizing the importance of interdisciplinary research. The volume serves as a vital resource for professionals seeking to deepen their expertise in metabolic disorders.
With its focus on inherited conditions, the book underscores the role of purine and pyrimidine metabolism in human health, offering perspectives that bridge laboratory findings with practical clinical applications.
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