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Inborn Metabolic Diseases
This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. The book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This 4th edition has been thoroughly updated and revised. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included. The book’s main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.
Inborn Metabolic Diseases
Being up to Date: Status Quo and Trends of Treatment For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated. What ́s new - Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations - Numerous updates on diagnostic procedures and treatment - ...
Purine and Pyrimidine Metabolism in Man IX
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 an...
Purine and Pyrimidine Metabolism in Man VII
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 meetin...
Empty Meeting Grounds
Empty Meeting Grounds continues Dean MacCannell's search for the cultural subject that is about to emerge from the encounter of the ex-primitive and the post-modern. It contains fascinating chapters on `Cannibal Tours', `The Desire to be Postmodern', the Vietnam Memorial in Washington D.C., the Statue of Liberty Restoration Project and the urbanization of Yosemite Park.
Inborn Metabolic Diseases
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Modulation by Covalent Modification
Current Topics in Cellular Regulation: Volume 27, Modulation by Covalent Modification is a compendium of papers dealing with the coordination, function, or control of cellular metabolism, particularly on modulation by covalent modification. One paper reviews the cyclic cascade model in metabolic regulation that shows the model's applicability to all covalent interconvertible enzyme systems, such as those modified by phosphorylation, ADP-ribosylation, carboxymethylation, acetylation, and sulfation. Another paper discusses the hypothesis that smooth muscle contraction is regulated by a calcium-dependent phosphorylation of the myosin molecule. Studies made by Sellers and Pato suggest that a pho...
