Purine and Pyrimidine Metabolism in Man VIII

Purine and Pyrimidine Metabolism in Man VIII
Author: Amrik Sahota
Publisher: Springer Science & Business Media
Total Pages: 814
Release: 2013-11-11
Genre: Medical
ISBN: 1461525845

These volumes record the presentations made at the VIII International Symposium on Purine and Pyrimidine Metabolism in Manheld at Indiana University, Bloomington, USA from May 22- May 27, 1994. This was a continuation of meetings held every three years with the idea of bringing clinicians and basic scientists together, which we hope results in cross-fertilization of ideas. Some of the papers presented in this volume represent oral contributions and others are from posters, but we emphasize that both are considered of equal merit. As is obvious from a perusal of the titles of the papers there has been a shift in the focus of this meeting, which reflects a general shift in the area of purine and pyrimidine metabolism. The emphasis has definitely shifted to gene structure and molecular genetics, with the beginnings we hope of gene therapy as an important branch of this area of science. Although many of the inherited diseases discussed in this text can be treated with drugs, the major thrust in the futurewill be in gene therapy, where the gene (or cDNA) will be used to treat the patient with enzyme deficiency, particularly if the patient is young. As can be seen from the Iist of authors there is a remarkable degree of international cooperation in this area across countries and continents. We thank the many participants who have attended these symposia many times, and we welcome the large group of scientists from Eastern Europe who are attending this meeting for the first time.

Purine and Pyrimidine Metabolism in Man IX

Purine and Pyrimidine Metabolism in Man IX
Author: Andrea Griesmacher
Publisher: Springer Science & Business Media
Total Pages: 816
Release: 2012-12-06
Genre: Science
ISBN: 1461553814

th th This volume comprizes articles presented at the joint IX International and 6 Euro pean Symposium on Purine and Pyrimidine Metabolism in Man held in Gmunden, Austria, June 1 through 7, 1997. Since the first of this series of meetings was held in Israel in 1973, conventions were organized every three years in different parts of the world including the USA, Japan, and Europe. The different aspects of purine and pyrimidine metabolism bring together re searchers working in molecular genetics, biochemical pharmacology, biochemistry, devel opmental biology, immunology, epidemiology and the clinics. Oriented research in the field has been seminal for the development of potent anticancer and antiviral drugs. As the number of genes which are cloned, grows, the understanding of metabolism is increas ingly enlarged and might provide leads to further improve therapeutic concepts and to bet ter understand mechanisms responsible for the development of resistance against these drugs. In certain diseases purine and pyrimidine analogs represent not only the drugs of choice but in fact are the sole therapeutic alternative at present. The field has also taken an early lead in attempting to correct inborn errors of purine and pyrimidine metabolism by gene therapy. The organization of this meeting involved a large number of people who dedicated their time in an effort to make this symposium a success. We thank the Abstract Review Committee, the International Advisory Board and in particular the Symposium Secretariat for doing a wonderful job.

Biomarkers in Inborn Errors of Metabolism

Biomarkers in Inborn Errors of Metabolism
Author: Uttam Garg
Publisher: Elsevier
Total Pages: 477
Release: 2017-06-07
Genre: Medical
ISBN: 0128029188

Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism

Purine and Pyrimidine Metabolism in Man VII

Purine and Pyrimidine Metabolism in Man VII
Author: R. Angus Harkness
Publisher: Springer
Total Pages: 424
Release: 1991-12-31
Genre: Science
ISBN: 9780306440939

These two volumes record the scientific and clinical work presented at the VIIth International and 3rd European joint symposium on purine and pyrimidine metabolism in man held at the Bournemouth International Conference Centre, Bournemouth, UK, from 30th June to 5th July 1991. The series of international meetings at three yearly intervals have previously been held initially in 1973 in Israel, then Austria, Spain, the Netherlands, USA and Japan. The European Society for the Study of Purine and pyrimidine Metabolism in Man (ESSPPM) which has its own executive and some finance first met in switzerland in 1987, then in Germany in 1989. The steady evolution of the science in this series of meetings is intellectually satisfying; the subsequent clinical progress is emotionally and economically reassuring. As befits the position of purines and pyrimidines at the centre of biochemistry, there has been steady scientific development into molecular genetics and now onto developmental controls and biochemical pharmacology. The complexities of the immune system are being unravelled but an understanding of the human brain largely eludes us. Laboratory based scientists now predominate over those who work as clinical specialists in VIi rheumatology, immunology, oncology and paediatrics. However, there continue to be major clinical objectives since large sections are concerned with major causes of death like ATP depletion, cancer and now AIDS; the laboratory work is providing clinical solutions.

Plant Nucleotide Metabolism

Plant Nucleotide Metabolism
Author: Hiroshi Ashihara
Publisher: John Wiley & Sons
Total Pages: 456
Release: 2020-01-23
Genre: Science
ISBN: 1119476100

All organisms produce nucleobases, nucleosides, and nucleotides of purines and pyrimidines. However, while there have been a number of texts on nucleotide metabolism in microorganisms and humans, the presence of these phenomena in plant life has gone comparatively unexplored. This ground-breaking new book is the first to focus exclusively on the aspects of purine nucleotide metabolism and function that are particular to plants, making it a unique and essential resource. The authors provide a comprehensive break down of purine nucleotide structures and metabolic pathways, covering all facets of the topic. Furthermore, they explain the role that purine nucleotides can play in plant development, as well as the effects they may have on human health when ingested. Plant Nucleotide Metabolism offers a unique and important resource to all students, researchers, and lecturers working in plant biochemistry, physiology, chemistry, agricultural sciences, nutrition, and associated fields of research.

The Biochemistry of Plants

The Biochemistry of Plants
Author:
Publisher: Academic Press
Total Pages: 547
Release: 2012-12-02
Genre: Science
ISBN: 0080926150

The Biochemistry of Plants, Volume 14: Carbohydrates provides information pertinent to the fundamental aspects of plant biochemistry. This book deals with the function and structure of the plant cell wall by describing the physical and chemical properties of cell wall components. Organized into 11 chapters, this volume begins with an overview of hexose phosphate metabolism in nonphotosynthetic tissues. This text then examines the findings in fructan structures, conformations, and linkages, the enzymes involved in fructan synthesis and degradation, and their cellular regulation, location, and metabolic role in plants. Other chapters consider the methods employing enzymes to determine starch structure. This book discusses as well the different biosynthetic modes of plant cell walls. The final chapter deals with the various environmental factors that influence expression of the ?-amylase gene, suggesting how molecular biology may help in understanding carbohydrate biochemistry and the enzymes involved in carbohydrate synthesis and metabolism. This book is a valuable resource for plant biochemists.

The Metabolic & Molecular Bases of Inherited Disease

The Metabolic & Molecular Bases of Inherited Disease
Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
Total Pages: 6338
Release: 2001
Genre: Genetic disorders
ISBN: 9780071363198

Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Inherited Metabolic Diseases

Inherited Metabolic Diseases
Author: Georg F. Hoffmann
Publisher: Springer Science & Business Media
Total Pages: 380
Release: 2009-11-21
Genre: Medical
ISBN: 3540747230

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

The European Blood and Marrow Transplantation Textbook for Nurses

The European Blood and Marrow Transplantation Textbook for Nurses
Author: Michelle Kenyon
Publisher: Springer
Total Pages: 318
Release: 2018-03-14
Genre: Medical
ISBN: 3319500260

This book is open access under a CC BY 4.0 license. This textbook, endorsed by the European Society for Blood and Marrow Transplantation (EBMT), provides adult and paediatric nurses with a full and informative guide covering all aspects of transplant nursing, from basic principles to advanced concepts. It takes the reader on a journey through the history of transplant nursing, including essential and progressive elements to help nurses improve their knowledge and benefit the patient experience, as well as a comprehensive introduction to research and auditing methods. This new volume specifically intended for nurses, complements the ESH-EBMT reference title, a popular educational resource originally developed in 2003 for physicians to accompany an annual training course also serving as an educational tool in its own right. This title is designed to develop the knowledge of nurses in transplantation. It is the first book of its kind specifically targeted at nurses in this specialist field and acknowledges the valuable contribution that nursing makes in this area. This volume presents information that is essential for the education of nurses new to transplantation, while also offering a valuable resource for more experienced nurses who wish to update their knowledge.